Non-syndromic familial congenital anorectal malformations
Gene: GLI3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pallister-Hall syndrome
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. This has been checked with the Genomics England clinical teamCreated: 2 Oct 2018, 3:57 p.m.
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.Created: 26 Sep 2018, 12:29 p.m.
Comment on list classification: Rated as Amber as is on expert list.Created: 19 Sep 2018, 4:17 p.m.
Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)Created: 19 Sep 2018, 4:17 p.m.
Eleanor Williams: Gene added from expert list fr
Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: gli3 has been classified as Green List (High Evidence).
Phenotypes for gene: GLI3 were changed from anorectal malformation to anorectal malformation; Pallister-Hall syndrome 146510
Publications for gene: GLI3 were set to
Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: gli3 has been classified as Green List (High Evidence).
Gene: gli3 has been classified as Amber List (Moderate Evidence).
Added phenotypes anorectal malformation for gene: GLI3
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