Defects of intrinsic and innate immunity

Gene: MCTS1

Green List (high evidence)

MCTS1 (MCTS1, re-initiation and release factor)
EnsemblGeneIds (GRCh38): ENSG00000232119
EnsemblGeneIds (GRCh37): ENSG00000232119
OMIM: 300587, Gene2Phenotype
MCTS1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

6 male subjects from 5 kindreds with LOF MCTS-1 variants with MSMD.
Extensive ex-vivo functional validation and mouse model.
Sources: Literature
Created: 3 Nov 2023, 6:50 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related
OMIM
300587
Clinvar variants
Variants in MCTS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mcts1 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MCTS1 were changed from to Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related

10 Nov 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MCTS1 were set to

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mcts1 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: MCTS1 was added gene: MCTS1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females