Clefting
Gene: PGM1
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
Gene: pgm1 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: PGM1.
Phenotypes for gene: PGM1 were changed from Cleft palate to Congenital disorder of glycosylation, type It, OMIM:14921
Publications for gene: PGM1 were set to 24499211; 37010288
Publications for gene: PGM1 were set to
Mode of inheritance for gene: PGM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
PGM1 was added to Clefting panel. Sources: Victorian Clinical Genetics Services
PGM1 was created by Ellen McDonagh