Phenotypic Variation: Causes & Reasons

Possible Causes for Phenotypic Variation

variation and newcomers in ion chanel disorders Bulman DE Human molecular genetics, 06/97, 6, 10, p. 1679-1685 [myobase.org]

1, 1, p. 26-32 Report of the committee on the genetic constitution of chromosome 11 Junien C, van Heyningen V Cytogenetics and cell genetics, 1991, 55, 1-4, p. 153-169 Phenotype [myobase.org]

Long QT Syndrome 3

variation and newcomers in ion chanel disorders Bulman DE Human molecular genetics, 06/97, 6, 10, p. 1679-1685 [myobase.org]

1, 1, p. 26-32 Report of the committee on the genetic constitution of chromosome 11 Junien C, van Heyningen V Cytogenetics and cell genetics, 1991, 55, 1-4, p. 153-169 Phenotype [myobase.org]

Long QT Syndrome 9

variation and newcomers in ion chanel disorders Bulman DE Human molecular genetics, 06/97, 6, 10, p. 1679-1685 [myobase.org]

1, 1, p. 26-32 Report of the committee on the genetic constitution of chromosome 11 Junien C, van Heyningen V Cytogenetics and cell genetics, 1991, 55, 1-4, p. 153-169 Phenotype [myobase.org]

Metaphyseal Acroscyphodysplasia

@article{Mitsui2014AcroscyphodysplasiaAA, title={Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.}, author={Toshikatsu [semanticscholar.org]

variation has also been reported[Linglart et al., 2012]. [docslide.us]

variation of PHP or acrodysostosis type 2;and elucidated that metaphyseal acroscypho deformity in PHP oracrodysostosis type 2 is caused by either a GNAS or PDE4Dmutation, [docslide.us]

Ring Chromosome 17

Case Reports Ring chromosome 17: phenotype variation by deletion size V Shashi et al. Clin Genet. 2003 Oct. [pubmed.ncbi.nlm.nih.gov]

variation by deletion size. ( 12974742 ) Shashi V....Bell W.L. 2003 6 CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring [malacards.org]

Guichet A. 2007 4 A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. ( 17163520 ) Havlovicova M....Sedlacek Z. 2007 5 Ring chromosome 17: phenotype [malacards.org]

McLeod Neuroacanthocytosis Syndrome

This phenotypic variation, despite shared mutations, suggests the action of disease-modifying factors that may explain some of the difficulties with genotype-phenotype correlation [ncbi.nlm.nih.gov]

Walker RH, Jung HH, Tison F, Lee S, Danek A (2007) Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. Mov Disord; 22: 244-247. [research-projects.uzh.ch]

variation among brothers with the McLeod neuroacanthocytosis syndrome. ( 17133513 ) Walker R.H....Danek A. 2007 24 McLeod syndrome: a neurohaematological disorder. ( 17683354 [malacards.org]

Andersen-Tawil Syndrome

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005;65:1083-9.. [scielo.br]

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. [scielo.br]

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Crossref PubMed Scopus (74) Google Scholar. [nmd-journal.com]

Long QT Syndrome 1

variation and newcomers in ion chanel disorders Bulman DE Human molecular genetics, 06/97, 6, 10, p. 1679-1685 [myobase.org]

1, 1, p. 26-32 Report of the committee on the genetic constitution of chromosome 11 Junien C, van Heyningen V Cytogenetics and cell genetics, 1991, 55, 1-4, p. 153-169 Phenotype [myobase.org]

Goldmann-Favre Syndrome

Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93. [disorders.eyes.arizona.edu]

Phenotypic variation in enhanced S-cone syndrome Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster [disorders.eyes.arizona.edu]

Paramyotonia Congenita

Phenotypic variations of mutations in SCN4A, however, have not been described yet. [ncbi.nlm.nih.gov]

Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica J Kim a, a, b, Y Hahn b, E H Sohn a, Y J Lee [doi.org]

Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. [ncbi.nlm.nih.gov]

Long QT Syndrome 12

variation and newcomers in ion chanel disorders Bulman DE Human molecular genetics, 06/97, 6, 10, p. 1679-1685 [myobase.org]

1, 1, p. 26-32 Report of the committee on the genetic constitution of chromosome 11 Junien C, van Heyningen V Cytogenetics and cell genetics, 1991, 55, 1-4, p. 153-169 Phenotype [myobase.org]

Camurati-Engelmann Syndrome

There are many similarities between Type 2 CED and hyperostosis generalisata with striations of the bones (HGS), with some speculating they are two phenotypic variations of [en.wikipedia.org]

Popliteal Pterygium Syndrome

Pediatrics. 1968; 41: 503 Google Scholar Bixler D Poland C Nance WE Phenotypic variation in the popliteal pterygium syndrome. [oooojournal.net]

Amelogenesis Imperfecta Type 2A5

Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification [genecards.org]

information about the gene’s variation in population cohorts and detailed information about related phenotypes. [blueprintgenetics.com]

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC24A4 Gene NCKX4_HUMAN-Q8NFF2 Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6 [genecards.org]

Perinatal Lethal Gaucher Disease

Abstract Abstract The marked phenotypic variation within and among the Gaucher disease clinical types has been known for several decades, but the characterization of this [ommbid.mhmedical.com]

Sidransky, Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity, Blood Cells, Molecules, and Diseases, 2011, 46, 1, 75 CrossRef 8 H. Ben Turkia, N. [onlinelibrary.wiley.com]

Sidransky, “Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity,” Blood Cells, Molecules, and Diseases, vol. 46, no. 1, pp. 75–84, 2011. [hindawi.com]

Ring Chromosome 22

Phenotypic variation in two patients with a ring chromosome 22. Clin Genet. 1979;16:305-310. Fryns JP, et al. [rarediseases.org]

variation in two patients with a ring chromosome 22. ( 519902 ) Funderburk S.J....Klisak I. 1979 36 Phenotypic correlations in patients with ring chromosome 22. ( 912941 [malacards.org]

22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother. ( 437787 ) Fryns J.P....Van den Berghe H. 1979 35 Phenotypic [malacards.org]

Usher Syndrome Type 2A

The USH2A gene is another example of such phenotypic variation of a Mendelian condition. [jmg.bmj.com]

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet. 1999;64(4):1221-5. [medigraphic.com]

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet. 2003;40:e8. 22. [revistabiomedica.org]

Hyperkalemic Paralysis

Eur-J-Pharmacol. 2001 Mar 23; 416(1-2): 11-8 Kim,-J; Hahn,-Y; Sohn,-E-H; Lee,-Y-J; Yun,-J-H; Kim,-J-M; Chung,-J-H Phenotypic variation of a Thr704Met mutation in skeletal [malattierare.regione.veneto.it]

Bone Dysplasia Type Moore

Kristiansen,-Marianne; Knudsen,-Gun-Peggy; Soyland,-Anne; Westvik,-Jostein; Orstavik,-Karen-Helene Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation [malattierare.regione.veneto.it]

Selective Tooth Agenesis Type 7

Recuperado de https://www.ncbi.nlm.nih.gov/pubmed/9482038 Dreesen, K. (2014) Tooth agenesis patterns and phenotype variation in a cohort of Belgian patines with hypodontia [revistas.ujat.mx]

Spermatogenic Failure Type 36

strengthening the emerging point of view that MMAF may be a phenotypic variation of the classical forms of primary ciliary dyskinesia. ...read moreread less Abstract: Background [typeset.io]

Moreover, the identification of mutations in a dynein strengthens the emerging point of view that MMAF may be a phenotypic variation of the classical forms of primary ciliary [typeset.io]

[…] unrelated patients with globozoospermia and large-headed spermatozoa confirmed that mutations in DPY19L2 and AURKC are mainly responsible for their respective pathological phenotype [typeset.io]

Primary Coenzyme Q10 Deficiency Type 7

Primary carnitine deficiency:heterozygote and intrafamilial phenotypic variation. Neurology 1991; 41:1691–1693. CAS PubMed Google Scholar De Vivo D, Tein I. [link.springer.com]

X-Linked Deafness

Syndactyly - Camptodactyly - Scoliosis

Syndactyly - Ectodermal Dysplasia - Cleft Lip-Palate-Hand-Foot

Vitamin Metabolic Disorder

Primary carnitine deficiency:heterozygote and intrafamilial phenotypic variation. Neurology 1991; 41:1691–1693. CAS PubMed Google Scholar De Vivo D, Tein I. [link.springer.com]

Congenital Stationary Night Blindness Type 1I

MIYADERA K., KATO K., AGUIRRE-HERNANDEZ J., TOKURIKI T., et al. (2009) - Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 [genodog.fr]

Autosomal Dominant Multiple Epiphyseal Dysplasia

variations of COMP defectsSKELETAL-RADIOLOGY. [malattierare.regione.veneto.it]

Sasaki-A; Sano-T; Ikegawa-SAutosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic [malattierare.regione.veneto.it]

Second Metatarsal-Metacarpal Syndrome

Clavicular Hypoplasia with Zygomatic Arch Hypoplasia and Micrognathia