Holoprosencephaly and septo-optic dysplasia

Gene: GLI2

Green List (high evidence)

Although cleating is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases. Hence, this gene can be added with green rating in clefting disorders panel.

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.

Created: 19 Jun 2023, 10:16 a.m. | Last Modified: 19 Jun 2023, 10:16 a.m.

Panel Version: 1.943

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Culler-Jones syndrome, OMIM:615849; Holoprosencephaly 9, OMIM:610829

Publications

• 24744436
• 37010288

Green List (high evidence)

At least 5 unrelated families reported, mouse model.

Created: 24 Apr 2021, 8:10 a.m. | Last Modified: 24 Apr 2021, 8:10 a.m.

Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 9, MIM# 610829

Publications

• 14581620
• 17096318
• 33235745
• 27585885