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Optic neuropathy

Gene: MCAT

Amber List (moderate evidence)
MCAT (malonyl-CoA-acyl carrier protein transacylase)
EnsemblGeneIds (GRCh38): ENSG00000100294
EnsemblGeneIds (GRCh37): ENSG00000100294
OMIM: 614479, Gene2Phenotype
MCAT is in 1 panel

3 reviews

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

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 ClinVar
Created: 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

Created: 2 Aug 2023, 4:02 p.m.
Last Modified: 2 Aug 2023, 4:02 p.m.
Panel version: 4.7

Ivone Leong (Genomics England Curator)

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
Created: 14 Jul 2020, 7:48 a.m.
Last Modified: 14 Jul 2020, 7:48 a.m.
Panel version: 2.14

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported.
Sources: Literature
Created: 1 May 2020, 9:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive autosomal recessive optic neuropathy

Publications

Created: 1 May 2020, 9:45 a.m.

Panel version: 2.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • progressive autosomal recessive optic neuropathy
  • Hereditary optic neuropathy, MONDO:0020249
OMIM
614479
Clinvar variants
Variants in MCAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2023, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MCAT were changed from progressive autosomal recessive optic neuropathy to progressive autosomal recessive optic neuropathy; Hereditary optic neuropathy, MONDO:0020249

6 Nov 2023, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MCAT were set to 31915829

6 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mcat has been classified as Amber List (Moderate Evidence).

14 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mcat has been classified as Red List (Low Evidence).

1 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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