Clefting
Gene: GLI2
Comment on list classification: Although clefting is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases. Hence, this gene should be promoted to green rating in the next GMS review.Created: 19 Jun 2023, 10:13 a.m. | Last Modified: 19 Jun 2023, 3:51 p.m.
Panel Version: 4.28
In ~400 screened individuals with HPE spectrum disorders, 112 individuals were identified with variants in GLI2 gene, of which 16 cases had cleft lip/ palate (PMID:24744436).
Three out of 17 patients reported with heterozygous GLI2 sequence variants in the DECIPHER database presented with cleft lip/ palate as one of the phenotypes (PMID:37010288).
OMIM reported cleft lip/ palate as one of the clinical presentations in a subset of patients with Culler-Jones syndrome (MIM #615849) and holoprosencephaly 9 (MIM #610829). These are diseases associated with autosomal dominant variants in GLI2 gene.
Sources: LiteratureCreated: 19 Jun 2023, 10:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Culler-Jones syndrome, OMIM:615849; Holoprosencephaly 9, OMIM:610829
Publications
Tag Q3_23_promote_green tag was added to gene: GLI2.
Gene: gli2 has been classified as Amber List (Moderate Evidence).
Gene: gli2 has been classified as Amber List (Moderate Evidence).
gene: GLI2 was added gene: GLI2 was added to Clefting. Sources: Literature Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI2 were set to 24744436; 37010288 Phenotypes for gene: GLI2 were set to Culler-Jones syndrome, OMIM:615849; Holoprosencephaly 9, OMIM:610829 Review for gene: GLI2 was set to GREEN