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  3. LMBRD2
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DDG2P

Gene: LMBRD2

Red List (low evidence)
LMBRD2 (LMBR1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000164187
EnsemblGeneIds (GRCh37): ENSG00000164187
LMBRD2 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for LMBRD2-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:32820033). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03212.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease LMBRD2-associated intellectual disability is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:32820033).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:619694.0; LMBRD2-associated intellectual disability; LMBRD2-related intellectual disability; MONDO:0859218

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • LMBRD2-associated intellectual disability
Clinvar variants
Variants in LMBRD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: LMBRD2 was changed from Other to None

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LMBRD2 was added gene: LMBRD2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMBRD2 were set to 32820033 Phenotypes for gene: LMBRD2 were set to LMBRD2-associated intellectual disability Mode of pathogenicity for gene: LMBRD2 was set to Other