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  3. THAP11
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Vitamin metabolism disorders

Gene: THAP11

Red List (low evidence)
THAP11 (THAP domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000168286
EnsemblGeneIds (GRCh37): ENSG00000168286
OMIM: 609119, Gene2Phenotype
THAP11 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Limited gene-disease validity classification on 09/02/2024 by General Inborn Errors of Metabolism GCEP
Created: 2 Apr 2024, 10:54 a.m. | Last Modified: 2 Apr 2024, 10:54 a.m.
Panel Version: 0.16
Created: 2 Apr 2024, 10:54 a.m.
Last Modified: 2 Apr 2024, 10:54 a.m.
Panel version: 0.16

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous missense variant, supportive functional data.
Sources: Expert Review
Created: 23 Mar 2023, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria, cblC type-like, MIM# 620940; Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related

Publications

Created: 23 Mar 2023, 8:03 a.m.

Panel version: 1.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert Review
Phenotypes
  • Methylmalonic aciduria, cblC type-like, MIM# 620940
  • Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
OMIM
609119
Clinvar variants
Variants in THAP11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THAP11 were changed from Methylmalonic aciduria and homocystinuria MONDO:0016826 to Methylmalonic aciduria, cblC type-like, MIM# 620940; Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related

2 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: thap11 has been classified as Red List (Low Evidence).

2 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: thap11 has been classified as Red List (Low Evidence).

2 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: THAP11 was added gene: THAP11 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THAP11 were set to 28449119 Phenotypes for gene: THAP11 were set to Methylmalonic aciduria and homocystinuria MONDO:0016826 Review for gene: THAP11 was set to RED