1. Panels
  2. Optic Atrophy
  3. MCAT
STRs in panel
Prev Next
Regions in panel
Prev Next

Optic Atrophy

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 2 panels

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

Second family reported, female patient with two novel MCAT variants.
Created: 4 May 2023, 2:30 a.m. | Last Modified: 4 May 2023, 2:30 a.m.
Panel Version: 1.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive autosomal recessive optic neuropathy; Leber hereditary optic neuropathy (LHON)-like

Publications

Created: 4 May 2023, 2:30 a.m.
Last Modified: 4 May 2023, 2:30 a.m.
Panel version: 1.12

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Sources: Literature
Created: 20 Apr 2020, 11:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 15, MIM# 620583

Publications

Created: 20 Apr 2020, 11:02 a.m.

Panel version: 1.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Optic atrophy 15, MIM# 620583
OMIM
614479
Clinvar variants
Variants in MCAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Optic atrophy 15, MIM# 620583

4 May 2023, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309

4 May 2023, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: MCAT were changed from progressive autosomal recessive optic neuropathy to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309

4 May 2023, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

4 May 2023, Gel status: 1

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: MCAT were set to 31915829

20 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCAT was added gene: MCAT was added to Optic Atrophy. 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