Clefting

Gene: PGM1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 2 May 2024, noon | Last Modified: 2 May 2024, noon

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There is sufficient evidence (>10 unrelated cases) for this gene to be rated green at the next GMS review.

Created: 19 Jun 2023, 6:31 p.m. | Last Modified: 19 Jun 2023, 6:31 p.m.

Panel Version: 4.39

PMID:24499211 - 19 patients from 16 families with biallelic variants in PGM1 and presenting with CGG1T. Of these, 16 patients from 13 different families had cleft palate and/ or bifid uvula.

DECIPHER database - Only one patient reported with compound heterozygous variant in PGM1 gene and this patient had cleft palate (PMID:37010288)

OMIM associated autosomal recessive PGM1 variants to congenital disorder of glycosylation, type It (MIM #14921) and cleft palate and bifid uvula have been recorded as clinical presentations of this disorder.

Created: 19 Jun 2023, 6:26 p.m. | Last Modified: 19 Jun 2023, 6:28 p.m.

Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type It, OMIM:14921

Publications

• 24499211
• 37010288