Fetal anomalies
Gene: CYP11A1

CYP11A1 (cytochrome P450 family 11 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000140459
EnsemblGeneIds (GRCh37): ENSG00000140459
OMIM: 118485, Gene2Phenotype
CYP11A1 is in 3 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

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.
Created: 21 Jan 2026, 11:46 a.m. | Last Modified: 21 Jan 2026, 11:46 a.m.

Panel Version: 6.135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Jan 2026, 11:46 a.m.
Last Modified: 21 Jan 2026, 11:46 a.m.
Panel version: 6.135

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.

Panel Version: 2.10

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.
Created: 7 Jun 2022, 11:01 a.m. | Last Modified: 7 Jun 2022, 11:01 a.m.

Panel Version: 1.865

Created: 7 Jun 2022, 11:01 a.m.
Last Modified: 7 Jun 2022, 11:01 a.m.
Panel version: 2.10

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a homozygous variant in CYP11A1 in a case where the main ultrasound finding was Hydrops, cardiomegaly (Table 1).
Created: 24 May 2019, 10:53 a.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:04 a.m.

Phenotypes
Hydrops, cardiomegaly

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.318

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
PAGE Additional Gene List
Expert Review Green

Phenotypes

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743

Tags

Q1_26_MOI

OMIM

118485

Clinvar variants

Variants in CYP11A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jan 2026, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q1_26_MOI tag was added to gene: CYP11A1.

30 Jan 2023, Gel status: 3