DDG2P
Gene: TM2D3

TM2D3 (TM2 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000184277
EnsemblGeneIds (GRCh37): ENSG00000184277
OMIM: 610014, Gene2Phenotype
TM2D3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations are moderate, biallelic_autosomal and loss of function (PMID:40449487). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03783.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations; MONDO:0700092

Publications

40449487

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

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0700092
TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations

OMIM

610014

Clinvar variants

Variants in TM2D3

Penetrance

None

Publications

40449487

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TM2D3 was added gene: TM2D3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TM2D3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TM2D3 were set to 40449487 Phenotypes for gene: TM2D3 were set to MONDO:0700092; TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations

DDG2P Gene: TM2D3