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Fetal anomalies

Gene: CYP11A1

Green List (high evidence)

CYP11A1 (cytochrome P450 family 11 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000140459
EnsemblGeneIds (GRCh37): ENSG00000140459
OMIM: 118485, Gene2Phenotype
CYP11A1 is in 4 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
OMIM
118485
Clinvar variants
Variants in CYP11A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CYP11A1 were set to

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CYP11A1 was added gene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743