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Inborn errors of metabolism

Gene: LMBRD1

Green List (high evidence)

LMBRD1 (LMBR1 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000168216
EnsemblGeneIds (GRCh37): ENSG00000168216
OMIM: 612625, Gene2Phenotype
LMBRD1 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least three variants reported in three unrelated cases together with supporting in vitro evidence
Created: 17 Jan 2017, 9:37 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type, 277380
OMIM
612625
Clinvar variants
Variants in LMBRD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LMBRD1. Source London North GLH was added to LMBRD1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, 277380

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LMBRD1 was added gene: LMBRD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 27604308