Pigmentary skin disorders

Gene: ABCD4

Amber List (moderate evidence)

ABCD4 (ATP binding cassette subfamily D member 4)
EnsemblGeneIds (GRCh38): ENSG00000119688
EnsemblGeneIds (GRCh37): ENSG00000119688
OMIM: 603214, Gene2Phenotype
ABCD4 is in 8 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

Single case in listed paper. Amber unless other cases available.
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive hyperpigmentation due to VitB12 metabolism defect

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ABCD4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Progressive hyperpigmentation due to VitB12 metabolism defect
OMIM
603214
Clinvar variants
Variants in ABCD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to ABCD4. Added phenotypes Progressive hyperpigmentation due to VitB12 metabolism defect for gene: ABCD4 Publications for gene ABCD4 were changed from to 25234635 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ABCD4.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ABCD4 was added gene: ABCD4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to Progressive hyperpigmentation due to VitB12 metabolism defect