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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 gene-checked
Clinvar variants
Variants in TMEM63B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

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