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Non-syndromic familial congenital anorectal malformations v0.120 | CASK | Eleanor Williams Publications for gene: CASK were set to 19200522; 28139025; 20029458; 25886057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.119 | CASK | Eleanor Williams Tag watchlist tag was added to gene: CASK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.111 | CASK | Eleanor Williams Marked gene: CASK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.111 | CASK | Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.110 | CASK | Eleanor Williams Mode of inheritance for gene: CASK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | CASK | Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | CASK | Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.80 | CASK | Eleanor Williams Publications for gene: CASK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.79 | CASK | Eleanor Williams Phenotypes for gene: CASK were changed from anorectal malformation to anorectal malformation; FG syndrome 4 300422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.78 | CASK |
Eleanor Williams commented on gene: CASK: In OMIM CASK is associated with FG syndrome 4. OMIM reports that in affected members of an Italian family with FG syndrome-4 (300422), Piluso et al. (2009)(PMID: 19200522) identified a missense mutation (R28L) in the CASK gene that segregated fully with the disease and was not found in 1,000 ethnically matched control X chromosomes. The three affected males have many clinical signs of FG syndrome and marked mental retardation, relative macrocephaly, congenital hypotonia, behavioral disturbances, and severe constipation. The substitution is at a highly conserved residue in the CaM-kinase domain. A search of PubMed finds the report of Dunn et al (2017)(PMID: 28139025) which describes a patient with a de novo splice site mutation in CASK (c.2521-2A>G) and clinical features of the FG syndrome-4 including severe constiptation. Other reports of variants in the CASK gene and X-linked mental retardation with additional phenotypic features (e.g. Hackett et al., 2010 (PMID: 20029458), Moog et al., 2015 (PMID: 25886057) but they do not appear to show an anorectal associated phenotype. |
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Non-syndromic familial congenital anorectal malformations v0.55 | CASK | Eleanor Williams Classified gene: CASK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.55 | CASK | Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.55 | CASK | Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.54 | CASK | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.54 | CASK | Eleanor Williams Classified gene: CASK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.54 | CASK | Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.54 | CASK | Eleanor Williams Gene: cask has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.53 | CASK | Eleanor Williams commented on gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | CASK | Eleanor Williams Added phenotypes anorectal malformation for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.47 | CASK |
Eleanor Williams gene: CASK was added gene: CASK was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: CASK was set to Phenotypes for gene: CASK were set to anorectal malformation |