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Non-syndromic familial congenital anorectal malformations v0.111 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Marked gene: GLI3 as ready
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Phenotypes for gene: GLI3 were changed from anorectal malformation to anorectal malformation; Pallister-Hall syndrome 146510
Non-syndromic familial congenital anorectal malformations v0.107 GLI3 Eleanor Williams Publications for gene: GLI3 were set to
Non-syndromic familial congenital anorectal malformations v0.106 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pallister-Hall syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.67 HOXD13 Eleanor Williams commented on gene: HOXD13: Garcia-Barceló et al 2008 (PMID:19006232) report a heterozygous ‘‘denovo’’ mutation consisting of a 21base-pair deletion (c.163_183del) in the HOXD13 gene in a VACTERL patient presenting with tetralogy of Fallot (heart defect), vesicoureteric reflux, fusion of the distal inter-phalangealjoints of the 4th and 5th toes and anal atresia. Parents and child were screened for variants in SHH, GLI3, and HOXD13. The mutation resulted in the removal of 7 alanines, No polyalanine contraction was found in 192 chromosomes of unrelated andethnically matched healthy individuals. There is the possibility that the HOXD13 mutation identified is only responsible for the digital phenotype and that a second mutation elsewhere in the genome exists that may explain the complexity of the phenotype.
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Classified gene: GLI3 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Added comment: Comment on list classification: Rating as green as sufficient evidence of association with Pallister-Hall
syndrome, which has anorectal malformation as part of the phenotype and potential early presentation of anorectal anomalies.
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.63 GLI3 Eleanor Williams commented on gene: GLI3: This gene is associated with Pallister-Hall syndrome in OMIM. Anorectal malformations is one of the phenotypes observed in this syndrome. 2 families have been reported with Pallister-Hall syndrome (PMID: 9054938; 10945658] and a variant in GLI3. Both families report some individuals with anorectal malformations. Stoll et al. (2001) (PMID: 11693785) described a patient considered to have Pallister-Hall syndrome in whom they could not identify a mutation in the GLI3 gene. A mutation was found in the GLI1 gene. Other cases of GLI3 variants in Pallister-Hall syndrome patients have been found but not always with reports of the anorectal malformation phenotype e.g. PMID: 21108399; 29204208.
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Classified gene: GLI3 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Added comment: Comment on list classification: Rated as Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Gene: gli3 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.51 GLI3 Eleanor Williams commented on gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.48 GLI3 Eleanor Williams Added phenotypes anorectal malformation for gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.47 GLI3 Eleanor Williams gene: GLI3 was added
gene: GLI3 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: GLI3 was set to
Phenotypes for gene: GLI3 were set to anorectal malformation