Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Differences in sex development v4.13 CYP11A1 Ida Ertmanska Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400
Differences in sex development v4.12 CYP11A1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: CYP11A1.
Differences in sex development v4.12 CYP11A1 Ida Ertmanska edited their review of gene: CYP11A1: Added comment: Comment on mode of inheritance: There are only two potentially plausible reports of heterozygous CYP11A1 variants and adrenal insufficiency / differences in sex development (PMIDs: 29995203, 11502818). In contrast, there are at least 44 biallelic CYP11A1 cases with adrenal insufficiency and/or differences in sex development. Studies have shown that severe CYP11A1 LOF variants in conjunction with common, 'likely benign' variants (e.g., rs6161 in European populations) may underlie unsolved cases of PAI (PMID:30620006). Hence, the mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal, for Differences in sex development.; Changed rating: GREEN; Changed publications to: 11502818, 29995203, 30620006, 35418949, 39457196; Changed phenotypes to: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences in sex development v4.12 CYP11A1 Ida Ertmanska commented on gene: CYP11A1
Differences in sex development v3.3 CYP11A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1.
Differences in sex development v3.3 CYP11A1 Arina Puzriakova Source NHS GMS was added to CYP11A1.
Mode of inheritance for gene CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences in sex development v3.2 CYP11A1 Arina Puzriakova commented on gene: CYP11A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Differences in sex development v2.61 CYP11A1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11A1.
Differences in sex development v2.61 CYP11A1 Arina Puzriakova Publications for gene: CYP11A1 were set to 19116240; 18182448
Differences in sex development v2.60 CYP11A1 Arina Puzriakova Added comment: Comment on mode of inheritance: Homozygous, compound heterozygous, and heterozygous (although most rare) variants in the CYP11A1 gene have all been associated with disease. Therefore, MOI should be updated to 'Both mono- and biallelic' at the next GMS panel update.
Differences in sex development v2.60 CYP11A1 Arina Puzriakova Mode of inheritance for gene: CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Differences in sex development v2.50 CYP11A1 Arina Puzriakova Phenotypes for gene: CYP11A1 were changed from Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Differences in sex development v1.32 CYP11A1 Ivone Leong reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development CYP11A1 Sarah Leigh marked CYP11A1 as ready
Differences in sex development CYP11A1 Sarah Leigh commented on CYP11A1