Ataxia and cerebellar anomalies - narrow panel
Gene: PMPCB
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Neurodegeneration in Early Childhood. At least five variants reported in three unrelated cases, together with supportive functional studies (PMID 29576218).Created: 11 May 2021, 4:33 p.m. | Last Modified: 11 May 2021, 4:33 p.m.
Panel Version: 2.172
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 11 May 2021, 4:28 p.m. | Last Modified: 11 May 2021, 4:28 p.m.
Panel Version: 2.172
Progressive disorder, includes ataxia. Four unrelated families reported.
Sources: Expert listCreated: 12 Sep 2020, 6:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: PMPCB.
Source Expert Review Green was added to PMPCB. Source NHS GMS was added to PMPCB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: PMPCB.
Gene: pmpcb has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
gene: PMPCB was added gene: PMPCB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Review for gene: PMPCB was set to GREEN gene: PMPCB was marked as current diagnostic