ABCD4

ATP binding cassette subfamily D member 4
OMIM: 603214, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber ABCD4 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Progressive hyperpigmentation due to VitB12 metabolism defect
Green ABCD4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type 614857
Green ABCD4 in Likely inborn error of metabolism Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type
Amber ABCD4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857
Green ABCD4 in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857
Green ABCD4 in Intellectual disability Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE MAHCJ
Red ABCD4 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH