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155 Possible Causes for CDH15, gene

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  • Adams-Oliver Syndrome 5

    They found that two people from different families had mutations in the NOTCH1 gene.[] PACS1, NOTCH2, TCTN3, C2CD3, UBR1, SRCAP, WNT5A, KPTN, TBC1D7, HEPACAM, CCND2, ROR2, CCNQ, IRF6, SPECC1L, CUL7, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, C12orf57, CDH15[] Using modern DNA technology to examine the patterns and variation of genes within two affected AOS families, the team detected mutations in the ARHGAP31 gene.[]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    Genes on chromosome 16 are responsible for alpha subunits, while genes on chromosome 11 control the production of beta subunits.[] Relevant External Links for CDH15 Genetic Association Database (GAD) CDH15 Human Genome Epidemiology (HuGE) Navigator CDH15 Atlas of Genetics and Cytogenetics in Oncology[] Note The disease is caused by mutations affecting the gene represented in this entry.[]

  • Dehydrated Hereditary Stomatocytosis

    Although the DHSt causative gene is unknown, previous studies have mapped the DHSt locus to 16q23 – 16qter.[] CDH15 or M-cadherin expression corre-lates mainly with differentiation of skeletal muscle cells(18).[] Specific recombination events consistently suggested that the responsible gene lies between markers D16S402 and D16S3037 (16q23-q24).[]

  • Nephrogenic Syndrome of Inappropriate Antidiuresis

    We suspected NSIAD in this family, sequenced the AVPR2 gene, and were able to identify the heterozygous missense mutation c.409C T (p.R137C) in the proposita, subsequently[] , SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15[] Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked disease due to gain-of-function mutations in the AVP V2 receptor gene.[]

  • Congenital Hypotrichosis with Juvenile Macular Dystrophy

    Mutations in the CDH3 gene have been reported to underlie HJMD. To identify a gene responsible for HJMD in a large, four-generation Pakistani family.[] CDH3 is also a retired HUGO symbol for what is now designated CDH15, see there.[] HJMD is caused by mutations in the P-cadherin gene (CDH3), a member of the family of classical cadherins.[]

  • Autosomal Recessive Mental Retardation 44

    […] contain only 4% of the human genes.[] SETD5, NDST1, MID2, METTL23, KIF4A, WASHC4, FMN2, FBXO31, EZR, CRADD, CLIP1, ADAT3, ZNF407, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15[] […] methyltransferase like 23 From NCBI Gene : The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition[]

  • Wiedemann-Steiner Syndrome

    Home / Genetic Testing / Test Catalogue / By Medical Specialty / Wiedemann-Steiner syndrome (sequence analysis of KMT2A gene) Back to results Wiedemann-Steiner syndrome (sequence[] CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15[] A de novo missense c.4342T C variant and a de novo splice site c.4086 G A variant were identified in the KMT2A gene in patients 1 and 2, respectively.[]

  • Rosselli-Gulienetti Syndrome

    "Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene" (Free full text) . J. Med. Genet . 40 (12): e133. doi : 10.1136/jmg.40.12.e133 .[] CDH1 Parkinson's Disease CHP Pheochromocytoma RET Pneumoconiosis CDH23 Polycystic Kidney, Autosomal Dominant PKD1 Polycystic Kidney Diseases PKD1 Polycystic Ovary Syndrome CDH15[] […] the result of improper gene dosage, not nonfunctional gene product 2.[]

  • Autosomal Dominant Mental Retardation 5

    If there is no such independent evidence, the gene will be listed simply as "S." 10/1/2017 Description A de novo frameshift variant in the KAT6A gene has been identified in[] These findings suggest a possible novel role for CDH15 and KIRREL3 in developing brain which is critical for the development and maintenance of human cognition.[] Note The disease is caused by mutations affecting the gene represented in this entry.[]

  • Congenital Afibrinogenemia

    In conclusion, the majority of patients have truncating mutations in the FGA gene although, intuitively, all three fibrinogen genes could be predicted to be equally implicated[] PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15[] These were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA).[]

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