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  3. CYP17A1
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Extreme early-onset hypertension

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Present in 4/4 sources, numerous variants reported for this phenotype
Created: 25 Jul 2016, 2:44 p.m.
Created: 25 Jul 2016, 2:44 p.m.

Panel version: 0.84

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congential adrenal hyperplasia, hypertension

Publications

Created: 20 Jun 2016, 6:22 a.m.

Panel version: 0.78

Ellen McDonagh (Genomics England Curator)

"CYP17" was submitted by the expert, CYP17A1 is likely to approved HGNC term.
Created: 15 Jul 2015, 11:08 a.m.
Created: 15 Jul 2015, 11:08 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • 17,20-lyase deficiency, isolated 202110
  • 17-alpha-hydroxylase/17,20-lyase deficiency 202110
OMIM
609300
Clinvar variants
Variants in CYP17A1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP17A1 were set to 17,20-lyase deficiency, isolated 202110; 17-alpha-hydroxylase/17,20-lyase deficiency 202110

25 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CYP17A1 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CYP17A1 was added to Extreme early-onset hypertensionpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CYP17* was added to Extreme early-onset hypertensionpanel. Sources: Expert