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  3. CYP17A1
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Renal Tubulopathies and related disorders

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 10 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

More than 100 families reported.
Sources: Expert list
Created: 24 Nov 2022, 4:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110

Publications

Created: 24 Nov 2022, 4:53 a.m.

Panel version: Imported from Hypertension and Aldosterone disorders panel version 1.6

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 100 families reported. DSD.
Created: 28 Nov 2021, 6:29 a.m. | Last Modified: 28 Nov 2021, 6:29 a.m.
Panel Version: 0.9912

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110

Publications

Created: 28 Nov 2021, 6:29 a.m.
Last Modified: 28 Nov 2021, 6:29 a.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version 0.9912

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
OMIM
609300
Clinvar variants
Variants in CYP17A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP17A1 was added gene: CYP17A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP17A1 were set to 2843762, 14671162, 2026124 Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110