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Non-syndromic familial congenital anorectal malformations v0.103 | FAM58A | Eleanor Williams Marked gene: FAM58A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | FAM58A | Eleanor Williams Added comment: Comment when marking as ready: Marked as ready, but noted that only Build 38 Ensembl gene is listed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | FAM58A | Eleanor Williams Gene: fam58a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.85 | FAM58A | Eleanor Williams Added comment: Comment on mode of inheritance: All reported cases have been in females. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.85 | FAM58A | Eleanor Williams Mode of inheritance for gene: FAM58A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.84 | FAM58A | Eleanor Williams Publications for gene: FAM58A were set to 18297069; 8818947; 28225384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.83 | FAM58A | Eleanor Williams Classified gene: FAM58A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.83 | FAM58A | Eleanor Williams Added comment: Comment on list classification: Rated green as 3 cases/families with point mutations in this gene, leading to potentially deleterious effects have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.83 | FAM58A | Eleanor Williams Gene: fam58a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.82 | FAM58A | Eleanor Williams Phenotypes for gene: FAM58A were changed from anorectal malformation to anorectal malformation; STAR syndrome 300707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.81 | FAM58A | Eleanor Williams Publications for gene: FAM58A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.80 | FAM58A |
Eleanor Williams commented on gene: FAM58A: FAM58A (CCNQ) is associated with STAR syndrome in OMIM and Gene2Phenotype (confirmed). Unger et al. (2008)(PMID: 18297069) found 2 females with anogenital and renal malformations, dysmorphic facial features, normal intelligence, and syndactyly of toes with genomic deletions removing regions of the FAM58A gene. In another 4 affected females, the authors found 3 different heterozygous point mutations. Two of these patients, a mother-daughter pair, had been reported by Green et al. (1996) (PMID: 8818947). All 6 patients showed anal atresia. Lefroy et al. (2017)(PMID: 28225384) identified a heterozygous deletion of the FAM58A gene in a 19-year-old woman with STAR syndrome. Her mother, who had only bilateral 4-5 toe syndactyly, was found to have approximately 50% mosaicism for the same deletion. |
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Non-syndromic familial congenital anorectal malformations v0.56 | FAM58A | Eleanor Williams Classified gene: FAM58A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.56 | FAM58A | Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.56 | FAM58A | Eleanor Williams Gene: fam58a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.55 | FAM58A | Eleanor Williams commented on gene: FAM58A: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | FAM58A | Eleanor Williams commented on gene: FAM58A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | FAM58A | Eleanor Williams Tag new-gene-name tag was added to gene: FAM58A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | FAM58A |
Eleanor Williams gene: FAM58A was added gene: FAM58A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: FAM58A was set to Phenotypes for gene: FAM58A were set to anorectal malformation |