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Newborns main panel

Gene: CYP17A1

Green List (high evidence)
CYP17A1 (cytochrome P450 family 17 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000148795
EnsemblGeneIds (GRCh37): ENSG00000148795
OMIM: 609300, Gene2Phenotype
CYP17A1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Sex mismatch/DSD - phenotype can include differences of sex development in one or both sexes. This could be the cause of an apparent mismatch between the genotypic sex and the phenotypic sex entered at the point of sample registration.

Additional Information: DSD can occur in males and females.
Created: 25 Sep 2024, 4:19 p.m. | Last Modified: 25 Sep 2024, 4:19 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 4:19 p.m.
Last Modified: 25 Sep 2024, 4:19 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 14715827
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency
Tags
special_consideration
OMIM
609300
Clinvar variants
Variants in CYP17A1
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CYP17A1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency for gene: CYP17A1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency for gene: CYP17A1

1 Jun 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CYP17A1 were changed from to 17-alpha-hydroxylase/17,20-lyase deficiency

31 May 2023, Gel status: 3

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CYP17A1. Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CYP17A1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CYP17A1 was added gene: CYP17A1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal