White matter disorders and cerebral calcification - narrow panel
Gene: TMEM63A

TMEM63A (transmembrane protein 63A)
EnsemblGeneIds (GRCh38): ENSG00000196187
EnsemblGeneIds (GRCh37): ENSG00000196187
TMEM63A is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.

Panel Version: 2.9

Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.9

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.

PMID: 33597727. 2 additional cases.

PMID: 33785861. 1 additional case.

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 6 May 2021, 1:56 p.m. | Last Modified: 6 May 2021, 1:56 p.m.

Panel Version: 1.61

Created: 6 May 2021, 1:56 p.m.
Last Modified: 6 May 2021, 1:56 p.m.
Panel version: 1.61

Zornitza Stark (Australian Genomics)

Green List (high evidence)

4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants, three of which were de novo.
Sources: Expert list
Created: 16 Sep 2020, 5:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688

Publications

31587869

Created: 16 Sep 2020, 5:14 a.m.

Panel version: 1.14

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Leukodystrophy, hypomyelinating, 19, transient infantile, OMIM:618688

Tags

gene-checked

Clinvar variants

Variants in TMEM63A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Feb 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: TMEM63A.

30 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: TMEM63A.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to TMEM63A. Source Expert Review Green was added to TMEM63A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 May 2021, Gel status: 2