Aminoacidopathy
Gene: LMBRD1EnsemblGeneIds (GRCh38): ENSG00000168216
EnsemblGeneIds (GRCh37): ENSG00000168216
OMIM: 612625, Gene2Phenotype
LMBRD1 is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/03/2021 - https://search.clinicalgenome.org/CCID:005290
Reported in multiple individuals with evidence of defective cobalamin metabolism.
Mechanism of disease appears to be loss of function leading to a defective release of cobalamin from lysosomes.
Sources: ClinGenCreated: 8 Jun 2024, 10:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
methylmalonic aciduria and homocystinuria type cblF MONDO:0010183
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- methylmalonic aciduria and homocystinuria type cblF MONDO:0010183
- OMIM
- 612625
- Clinvar variants
- Variants in LMBRD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmbrd1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmbrd1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: LMBRD1 was added gene: LMBRD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 20301503; 19136951; 32875039; 20127417; 21303734 Phenotypes for gene: LMBRD1 were set to methylmalonic aciduria and homocystinuria type cblF MONDO:0010183 Review for gene: LMBRD1 was set to GREEN