Congenital Disorders of Glycosylation
Gene: POFUT1
PMID: 23684010;
- 2 probands both with LoF variants.
- No biochem studies, only POFUT1 knockout zebrafish model
PMID: 29452367
- 1 proband
- extracts from fibroblasts demonstrated reduced POFUT1 activity, which was determined based on amount of incorporated fucose/glucose into EGF repeats
PMID: 25157627;
- 10 affecteds from 3 families
- no biochemical studies doneCreated: 22 Jul 2020, 1:56 a.m. | Last Modified: 22 Jul 2020, 1:56 a.m.
Panel Version: 0.96
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dowling-Degos disease 2 (MIM# 615327)
Publications
Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
Publications for gene: POFUT1 were set to
Gene: pofut1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: pofut1 has been classified as Amber List (Moderate Evidence).
gene: POFUT1 was added gene: POFUT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POFUT1 was set to Unknown