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Prepair 500+

Gene: LMBRD1

Green List (high evidence)

LMBRD1 (LMBR1 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000168216
EnsemblGeneIds (GRCh37): ENSG00000168216
OMIM: 612625, Gene2Phenotype
LMBRD1 is in 10 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
OMIM
612625
Clinvar variants
Variants in LMBRD1
Penetrance
None
Panels with this gene

History Filter Activity

3 Nov 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: LMBRD1 was added gene: LMBRD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)