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Mendeliome

Gene: CYP3A4

Green List (high evidence)

CYP3A4 (cytochrome P450 family 3 subfamily A member 4)
EnsemblGeneIds (GRCh38): ENSG00000160868
EnsemblGeneIds (GRCh37): ENSG00000160868
OMIM: 124010, Gene2Phenotype
CYP3A4 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two individuals reported with same recurrent de novo missense p.Ile301Thr. Functional data demonstrated increased enzyme activity, leading to accelerated inactivation of vitamin D metabolites and vitamin D deficiency.
Created: 27 Oct 2020, 9:26 p.m. | Last Modified: 27 Oct 2020, 9:26 p.m.
Panel Version: 0.5146

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vitamin D-dependent rickets-3, MIM#619073

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitamin D-dependent rickets-3, MIM#619073
OMIM
124010
Clinvar variants
Variants in CYP3A4
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

27 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp3a4 has been classified as Green List (High Evidence).

27 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP3A4 were changed from to Vitamin D-dependent rickets-3, MIM#619073

27 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP3A4 were set to

27 Oct 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: CYP3A4 was changed from to Other

27 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP3A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP3A4 was added gene: CYP3A4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP3A4 was set to Unknown