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DDG2P

Gene: TMEM163

Green List (high evidence)
TMEM163 (transmembrane protein 163)
EnsemblGeneIds (GRCh38): ENSG00000152128
EnsemblGeneIds (GRCh37): ENSG00000152128
TMEM163 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM163-related hypomyelinating leukodystrophy are moderate, monoallelic_autosomal and undetermined (PMIDs: 35455965, 35953447). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03373.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The OMIM entry for this gene is OMIM:618978, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Created: 17 Oct 2023, 11:44 a.m. | Last Modified: 17 Oct 2023, 11:44 a.m.
Panel Version: 3.73
The DDG2P confidence category for the disease TMEM163-related hypomyelinating leukodystrophy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 35455965;35953447). This gene-disease association is typified by reduced penetrance.
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
TMEM163-related hypomyelinating leukodystrophy; MONDO:0859378; OMIM:620243.0

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
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TMEM163-related hypomyelinating leukodystrophy
Tags
de novo gene-checked
Clinvar variants
Variants in TMEM163
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TMEM163 was changed from Other to None

17 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: TMEM163.

6 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: TMEM163.

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TMEM163 was added gene: TMEM163 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to 35953447; 35455965 Phenotypes for gene: TMEM163 were set to TMEM163-related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM163 was set to Other