ABCD4

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ABCD4 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Green ABCD4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857
Red ABCD4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type
Amber ABCD4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857
Green ABCD4 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 Tags treatable metabolic
Green ABCD4 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 disorder of vitamin B12 metabolism