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| Aminoacidopathy v1.60 | LMBRD1 | Zornitza Stark Marked gene: LMBRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.60 | LMBRD1 | Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.60 | LMBRD1 | Zornitza Stark Classified gene: LMBRD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.60 | LMBRD1 | Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.59 | LMBRD1 |
Sangavi Sivagnanasundram 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 Added comment: 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: ClinGen |
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