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Fetal anomalies

Gene: LMBRD1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Onset in infancy.
Created: 9 Feb 2020, 7:11 a.m. | Last Modified: 25 Jan 2022, 6:53 a.m.
Panel Version: 0.2761

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380
OMIM
612625
Clinvar variants
Variants in LMBRD1
Penetrance
None
Panels with this gene

History Filter Activity

25 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmbrd1 has been classified as Red List (Low Evidence).

25 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LMBRD1 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380

25 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmbrd1 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMBRD1 was added gene: LMBRD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF