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  3. TMEM184B
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DDG2P

Gene: TMEM184B

Red List (low evidence)
TMEM184B (transmembrane protein 184B)
EnsemblGeneIds (GRCh38): ENSG00000198792
EnsemblGeneIds (GRCh37): ENSG00000198792
TMEM184B is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM184B-related neurodevelopmental disorder are limited, monoallelic_autosomal and loss of function (PMID:40885185). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03910.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

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

Phenotypes
TMEM184B-related neurodevelopmental disorder

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • TMEM184B-related neurodevelopmental disorder
Clinvar variants
Variants in TMEM184B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TMEM184B was added gene: TMEM184B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TMEM184B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM184B were set to 40885185 Phenotypes for gene: TMEM184B were set to TMEM184B-related neurodevelopmental disorder