Congenital disorders of glycosylation

Gene: SRD5A3

Green List (high evidence)

Comment on rating: At least 38 genetically confirmed patients (from 26 families) have been reported. The frequency and prevalence of the disease are not known. Most patients have been reported from Afghanistan, the Czech Republic, Iran, Pakistan, Poland, Puerto Rico, and Turkey.

Comment on the mode of pathogenicity: Loss-of-function; At least 15 variants have been reported: 11 nonsense variants, 3 missense variants, and a large deletion (www.lovd.nl/SRD5A3)

Comment on the mode of inheritance: AR (homozygous or compound heterozygous)

Created: 29 Aug 2020, 6:11 a.m. | Last Modified: 29 Aug 2020, 6:11 a.m.

Panel Version: 2.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Disorder of Glycosylation, Type Iq (OMIM: 612379); Kahrizi Syndrome (OMIM: 612713)

Publications

• PMID: 32424323

Mode of pathogenicity
Other

Comment on phenotypes: Also associated with Kahrizi syndrome 612713

Created: 19 Dec 2016, 12:07 p.m.

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported in 5 unrelated cases.

Created: 19 Dec 2016, 12:06 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 27480077