LMBRD1

LMBR1 domain containing 1
OMIM: 612625, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green LMBRD1 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380 Tags treatable
Green LMBRD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380 Tags treatable
Green LMBRD1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Green LMBRD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria
Red LMBRD1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380
Green LMBRD1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Green LMBRD1 in Aminoacidopathy Level 2: Metabolic disorders Version 1.137 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes methylmalonic aciduria and homocystinuria type cblF MONDO:0010183
Green LMBRD1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Methylmalonic aciduria and homocystinuria, MIM#277380 Tags treatable metabolic
Green LMBRD1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Green LMBRD1 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, cblF type MIM#277380 Disorders of cobalamin absorption, transport and metabolism Tags treatable