Optic neuropathy
Gene: MCAT
Second paper describing MCAT variants causing optic neuropathy in one French patient
NM_173467.4/NM_014507.3:c.424-2A>G
NM_173467.4:c.1039G>A, p.Glu347Lys (NM_014507.3:c.824G>A, p.Glu275Lys; rs375520104)
Only one other variant found - a MT-CYB variant found which has now been labelled benign on ClinVarCreated: 2 Aug 2023, 4:02 p.m. | Last Modified: 2 Aug 2023, 4:02 p.m.
Panel Version: 4.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary optic neuropathy
Publications
Comment on list classification: Promoted from Red to Amber, based on new evidence of a second case (PMID:33918393).Created: 6 Nov 2023, 2:06 p.m. | Last Modified: 6 Nov 2023, 2:06 p.m.
Panel Version: 4.14
Comment on list classification: New gene added by Zornitza Stark. Based on the evidence this gene has been rated as Red as there is only 1 reported case.Created: 14 Jul 2020, 7:48 a.m. | Last Modified: 14 Jul 2020, 7:48 a.m.
Panel Version: 2.14
Single family reported.
Sources: LiteratureCreated: 1 May 2020, 9:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive autosomal recessive optic neuropathy
Publications
Phenotypes for gene: MCAT were changed from progressive autosomal recessive optic neuropathy to progressive autosomal recessive optic neuropathy; Hereditary optic neuropathy, MONDO:0020249
Publications for gene: MCAT were set to 31915829
Gene: mcat has been classified as Amber List (Moderate Evidence).
Gene: mcat has been classified as Red List (Low Evidence).
gene: MCAT was added gene: MCAT was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCAT were set to 31915829 Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy Review for gene: MCAT was set to RED