White matter disorders and cerebral calcification - narrow panel
Gene: TMEM63A
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
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
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
4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants, three of which were de novo.
Sources: Expert listCreated: 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
Tag gene-checked tag was added to gene: TMEM63A.
Tag Q2_21_rating was removed from gene: TMEM63A.
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)
Tag Q2_21_rating tag was added to gene: TMEM63A.
Publications for gene: TMEM63A were set to 31587869
Gene: tmem63a has been classified as Amber List (Moderate Evidence).
Gene: tmem63a has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TMEM63A were changed from Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688 to Leukodystrophy, hypomyelinating, 19, transient infantile, OMIM:618688
gene: TMEM63A was added gene: TMEM63A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688 Review for gene: TMEM63A was set to GREEN