Non-syndromic familial congenital anorectal malformations

Gene: GLI3

Green List (high evidence)

GLI3 (GLI family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 28 panels

2 reviews

Charles Shaw-Smith (Royal Devon and Exeter NHS Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pallister-Hall syndrome

Eleanor Williams (Genomics England Curator)

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 team
Created: 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.

History Filter Activity

8 Nov 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Gene added from expert list fr

1 Nov 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: gli3 has been classified as Green List (High Evidence).

1 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: GLI3 were changed from anorectal malformation to anorectal malformation; Pallister-Hall syndrome 146510

1 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: GLI3 were set to

1 Nov 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: gli3 has been classified as Green List (High Evidence).

19 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: gli3 has been classified as Amber List (Moderate Evidence).

19 Sep 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes anorectal malformation for gene: GLI3

19 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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