Retinal disorders
Gene: MMACHCThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 cases in the literature; therefore, there is enough evidence to support a gene-disease association. This gene has been rated Amber and should be given Green status at the next review.Created: 7 Jan 2021, 2:18 p.m. | Last Modified: 7 Jan 2021, 2:18 p.m.
Panel Version: 2.88
Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases.
Sources: Expert listCreated: 12 Oct 2020, 1:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Publications
Tag for-review was removed from gene: MMACHC.
Source Expert Review Green was added to MMACHC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: mmachc has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MMACHC.
Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 to Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184
Publications for gene: MMACHC were set to 28481040
gene: MMACHC was added gene: MMACHC was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 28481040 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Review for gene: MMACHC was set to GREEN