ABCD4:Ensemblv90

ATP binding cassette subfamily D member 4
OMIM: 603214, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ABCD4 in Mendeliome Version 1.3802	2 reviews	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 1.508	1 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	0 reviews	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 1.482	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	2 reviews	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 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel	1 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
Green ABCD4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS BabySeq Category C gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 Tags treatable metabolic
Green ABCD4 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Literature Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 disorder of vitamin B12 metabolism