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  3. CYP3A4
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Hypophosphataemia or rickets

Gene: CYP3A4

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

2 reviews

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Roizen et al 2018 (PMID 29461981) - 2 unrelated females with vitamin D deficient rickets. Both had de novo missense variant. VDDR due to accelerated inactivation of vitamin D metabolites.
Created: 28 Jan 2019, 1:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vitamin D-Dependent Rickets

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 28 Jan 2019, 1:44 p.m.

Panel version: 0.33

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber.
Created: 29 Jan 2019, 11:47 a.m.
Comment on list classification: Promoted from red to amber.There is not sufficient evidence to promote this gene to green status. The functional studies described in PMID: 29461981 is only in vitro studies. Have put 'watchlist' tag on.
Created: 16 Jan 2019, 2:15 p.m.
Created: 16 Jan 2019, 2:15 p.m.

Panel version: 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
OMIM
124010
Clinvar variants
Variants in CYP3A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

16 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).

16 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).

16 Jan 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CYP3A4 was added gene: CYP3A4 was added to Hypophosphataemia or rickets. Sources: NHS GMS Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYP3A4 were set to 29461981