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| Congenital adrenal hypoplasia v4.10 | CYP11A1 | Ida Ertmanska Publications for gene: CYP11A1 were set to 11502818; 29995203; 31671693; 12161514; 15507506; 16705068; 18182448; 19116240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v4.9 | CYP11A1 | Ida Ertmanska Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743 to drenal 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v4.8 | CYP11A1 | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: CYP11A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v4.8 | CYP11A1 | Ida Ertmanska edited their review of gene: CYP11A1: Changed publications to: 11502818, 29995203, 30620006, 35418949, 39457196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v4.8 | CYP11A1 |
Ida Ertmanska changed review comment from: PMID: 39457196 - 2024 literature review: 4 het individuals (described below) and 44 homozygous cases of P450scc deficiency PMID: 29995203 - het CYP11A1 c.235G>A, p.Val79Ile - 3 family members with transient adrenal insufficiency and life-threatening failure to thrive - variant has MAF 0.006202 in gnomAD (European pop), 24 homozygotes - unlikely to be pathogenic? PMID: 11502818 - heterozygous CYP11A1 c.809_814dup; p.Asp271_Val272insGlyAsp - female with clitoromegaly and adrenal insufficiency, onset at 4 years (not congenital?); variant not reported in gnomAD Additional evidence: PMID: 35418949 - possible digenic, tri-allelic inheritance - patient with compound heterozygous variants in STAR, c.465+1G>A and p.(E99K), plus a heterozygous c.940G>A (p.Glu314Lys) change in CYP11A1 (MAF 0.004798, 18 homozygotes total in gnomAD). PMID: 30620006 - 'Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing' - showed that rs6161 - CYP11A1 c.940G>A (p.Glu314Lys) - alters splicing of the pre-mRNA sequence, and may be responsible for a substantial proportion of unsolved PAI in conjunction with another LOF allele https://abstracts.eurospe.org/hrp/0092/hrp0092p2-260 - poster - het case with CYP11A1 c.835delA p.(lle279Tyrfs*1) - normally pathogenic in recessive state - may contribute but not explain the phenotype. Patient phenotype: hypoglycaemia, perineal hypospadias, chordee and cryptorchidism. CYP11A1 is associated with Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743 - MOI not specified (OMIM accessed 21st Jan 2026).; to: PMID: 39457196 - 2024 literature review: 4 het individuals (described below) and 44 biallelic cases of P450scc deficiency PMID: 29995203 - het CYP11A1 c.235G>A, p.Val79Ile - 3 family members with transient adrenal insufficiency and life-threatening failure to thrive - variant has MAF 0.006202 in gnomAD (European pop), 24 homozygotes - unlikely to be pathogenic? PMID: 11502818 - heterozygous CYP11A1 c.809_814dup; p.Asp271_Val272insGlyAsp - female with clitoromegaly and adrenal insufficiency, onset at 4 years (not congenital?); variant not reported in gnomAD Additional evidence: PMID: 35418949 - possible digenic, tri-allelic inheritance - patient with compound heterozygous variants in STAR, c.465+1G>A and p.(E99K), plus a heterozygous c.940G>A (p.Glu314Lys) change in CYP11A1 (MAF 0.004798, 18 homozygotes total in gnomAD). PMID: 30620006 - 'Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing' - showed that rs6161 - CYP11A1 c.940G>A (p.Glu314Lys) - alters splicing of the pre-mRNA sequence, and may be responsible for a substantial proportion of unsolved PAI in conjunction with another LOF allele https://abstracts.eurospe.org/hrp/0092/hrp0092p2-260 - poster - het case with CYP11A1 c.835delA p.(lle279Tyrfs*1) - normally pathogenic in recessive state - may contribute but not explain the phenotype. Patient phenotype: hypoglycaemia, perineal hypospadias, chordee and cryptorchidism. CYP11A1 is associated with Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743 - MOI not specified (OMIM accessed 21st Jan 2026). |
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| Congenital adrenal hypoplasia v4.8 | CYP11A1 | Ida Ertmanska commented on gene: CYP11A1: Comment on mode of inheritance: There are only two potentially plausible reports of heterozygous CYP11A1 variants and adrenal insufficiency (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 Congenital adrenal hypoplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v4.8 | CYP11A1 |
Ida Ertmanska changed review comment from: PMID: 39457196 - 2024 literature review: 4 het individuals (described below) and 44 homozygous cases of P450scc deficiency PMID: 29995203 - het CYP11A1 c.235G>A, p.Val79Ile - 3 family members with transient adrenal insufficiency and life-threatening failure to thrive - variant has MAF 0.006202 in gnomAD (European pop), 24 homozygotes - unlikely to be pathogenic PMID: 11502818 - heterozygous CYP11A1 c.809_814dup; p.Asp271_Val272insGlyAsp - female with clitoromegaly and adrenal insufficiency, onset at 4 years (not congenital?); variant not reported in gnomAD Additional evidence: PMID: 35418949 - possible digenic, tri-allelic inheritance - patient with compound heterozygous variants in STAR, c.465+1G>A and p.(E99K), plus a heterozygous c.940G>A (p.Glu314Lys) change in CYP11A1 (MAF 0.004798, 18 homozygotes total in gnomAD). PMID: 30620006 - 'Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing' - showed that rs6161 - CYP11A1 c.940G>A (p.Glu314Lys) - alters splicing of the pre-mRNA sequence, and may be responsible for a substantial proportion of unsolved PAI in conjunction with another LOF allele https://abstracts.eurospe.org/hrp/0092/hrp0092p2-260 - poster - het case with CYP11A1 c.835delA p.(lle279Tyrfs*1) - normally pathogenic in recessive state - may contribute but not explain the phenotype. Patient phenotype: hypoglycaemia, perineal hypospadias, chordee and cryptorchidism. CYP11A1 is associated with Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743 - MOI not specified (OMIM accessed 21st Jan 2026).; to: PMID: 39457196 - 2024 literature review: 4 het individuals (described below) and 44 homozygous cases of P450scc deficiency PMID: 29995203 - het CYP11A1 c.235G>A, p.Val79Ile - 3 family members with transient adrenal insufficiency and life-threatening failure to thrive - variant has MAF 0.006202 in gnomAD (European pop), 24 homozygotes - unlikely to be pathogenic? PMID: 11502818 - heterozygous CYP11A1 c.809_814dup; p.Asp271_Val272insGlyAsp - female with clitoromegaly and adrenal insufficiency, onset at 4 years (not congenital?); variant not reported in gnomAD Additional evidence: PMID: 35418949 - possible digenic, tri-allelic inheritance - patient with compound heterozygous variants in STAR, c.465+1G>A and p.(E99K), plus a heterozygous c.940G>A (p.Glu314Lys) change in CYP11A1 (MAF 0.004798, 18 homozygotes total in gnomAD). PMID: 30620006 - 'Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing' - showed that rs6161 - CYP11A1 c.940G>A (p.Glu314Lys) - alters splicing of the pre-mRNA sequence, and may be responsible for a substantial proportion of unsolved PAI in conjunction with another LOF allele https://abstracts.eurospe.org/hrp/0092/hrp0092p2-260 - poster - het case with CYP11A1 c.835delA p.(lle279Tyrfs*1) - normally pathogenic in recessive state - may contribute but not explain the phenotype. Patient phenotype: hypoglycaemia, perineal hypospadias, chordee and cryptorchidism. CYP11A1 is associated with Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743 - MOI not specified (OMIM accessed 21st Jan 2026). |
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| Congenital adrenal hypoplasia v4.8 | CYP11A1 |
Ida Ertmanska changed review comment from: PMID: 39457196 - 2024 literature review: 4 het individuals (described below) and 44 homozygous cases of P450scc deficiency PMID: 29995203 - het CYP11A1 c.235G>A, p.Val79Ile - 3 family members with transient adrenal insufficiency and life-threatening failure to thrive - variant has MAF 0.006202 in gnomAD (European pop), 24 homozygotes - unlikely to be pathogenic PMID: 11502818 - heterozygous CYP11A1 c.809_814dup; p.Asp271_Val272insGlyAsp - female with clitoromegaly and adrenal insufficiency, onset at 4 years (not congenital?); variant not reported in gnomAD Additional evidence: PMID: 35418949 - possible digenic, tri-allelic inheritance - patient with compound heterozygous variants in STAR, c.465+1G>A and p.(E99K), plus a heterozygous c.940G>A (p.Glu314Lys) change in CYP11A1 (MAF 0.004798, 18 homozygotes total in gnomAD). https://abstracts.eurospe.org/hrp/0092/hrp0092p2-260 - poster - het case with CYP11A1 c.835delA p.(lle279Tyrfs*1) - normally pathogenic in recessive state - may contribute but not explain the phenotype. Patient phenotype: hypoglycaemia, perineal hypospadias, chordee and cryptorchidism. CYP11A1 is associated with Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743 - MOI not specified (OMIM accessed 21st Jan 2026).; to: PMID: 39457196 - 2024 literature review: 4 het individuals (described below) and 44 homozygous cases of P450scc deficiency PMID: 29995203 - het CYP11A1 c.235G>A, p.Val79Ile - 3 family members with transient adrenal insufficiency and life-threatening failure to thrive - variant has MAF 0.006202 in gnomAD (European pop), 24 homozygotes - unlikely to be pathogenic PMID: 11502818 - heterozygous CYP11A1 c.809_814dup; p.Asp271_Val272insGlyAsp - female with clitoromegaly and adrenal insufficiency, onset at 4 years (not congenital?); variant not reported in gnomAD Additional evidence: PMID: 35418949 - possible digenic, tri-allelic inheritance - patient with compound heterozygous variants in STAR, c.465+1G>A and p.(E99K), plus a heterozygous c.940G>A (p.Glu314Lys) change in CYP11A1 (MAF 0.004798, 18 homozygotes total in gnomAD). PMID: 30620006 - 'Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing' - showed that rs6161 - CYP11A1 c.940G>A (p.Glu314Lys) - alters splicing of the pre-mRNA sequence, and may be responsible for a substantial proportion of unsolved PAI in conjunction with another LOF allele https://abstracts.eurospe.org/hrp/0092/hrp0092p2-260 - poster - het case with CYP11A1 c.835delA p.(lle279Tyrfs*1) - normally pathogenic in recessive state - may contribute but not explain the phenotype. Patient phenotype: hypoglycaemia, perineal hypospadias, chordee and cryptorchidism. CYP11A1 is associated with Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743 - MOI not specified (OMIM accessed 21st Jan 2026). |
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| Congenital adrenal hypoplasia v4.8 | CYP11A1 | Ida Ertmanska reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502818, 29995203, 35418949, 39457196; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.2 | CYP11A1 | Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.2 | CYP11A1 | Arina Puzriakova commented on gene: CYP11A1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.11 | CYP11A1 | Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.11 | CYP11A1 | Arina Puzriakova Publications for gene: CYP11A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.10 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.10 | CYP11A1 | Arina Puzriakova Mode of inheritance for gene: CYP11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.7 | CYP11A1 | Arina Puzriakova Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743; Congenital Adrenal Insufficiency to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v1.7 | CYP11A1 | Ivone Leong commented on gene: CYP11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||