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| Congenital disorders of glycosylation v2.26 | SRD5A3 | Sarah Leigh Phenotypes for gene: SRD5A3 were changed from Congenital disorder of glycosylation, type Iq 612379; SRD5A3-CDG (Disorders of protein N-glycosylation) to Congenital Disorder of Glycosylation, Type Iq OMIM:612379; Kahrizi Syndrome OMIM:612713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.25 | SRD5A3 | Sarah Leigh Publications for gene: SRD5A3 were set to 27480077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | SRD5A3 | Mehdi Montazer reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32424323; Phenotypes: Congenital Disorder of Glycosylation, Type Iq (OMIM: 612379), Kahrizi Syndrome (OMIM: 612713); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | SRD5A3 | Mehdi Montazer Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | SRD5A3 |
Mehdi Montazer changed review comment from: 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); to: 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) |
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| Congenital disorders of glycosylation v2.14 | SRD5A3 | Mehdi Montazer reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32424323; Phenotypes: Congenital Disorder of Glycosylation, Type Iq (OMIM: 612379 ), Kahrizi Syndrome (OMIM: 612713); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation | SRD5A3 | Sarah Leigh marked SRD5A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation | SRD5A3 | Sarah Leigh commented on SRD5A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation | SRD5A3 | Daniel Ungar reviewed SRD5A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||