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DDG2P

Gene: TMEM63B

Green List (high evidence)
TMEM63B (transmembrane protein 63B)
EnsemblGeneIds (GRCh38): ENSG00000137216
EnsemblGeneIds (GRCh37): ENSG00000137216
TMEM63B is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease TMEM63B-related developmental and epileptic encephalopathy with anaemia is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37421948).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
TMEM63B-related developmental and epileptic encephalopathy with anaemia

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TMEM63B-related developmental and epileptic encephalopathy with anaemia
Tags
de novo
Clinvar variants
Variants in TMEM63B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: TMEM63B.

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: TMEM63B.

3 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: TMEM63B.

26 Sep 2024, 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: TMEM63B was added gene: TMEM63B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM63B were set to 37421948 Phenotypes for gene: TMEM63B were set to TMEM63B-related developmental and epileptic encephalopathy with anaemia Mode of pathogenicity for gene: TMEM63B was set to Other