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  3. ZNF143
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Vitamin metabolism disorders

Gene: ZNF143

Amber List (moderate evidence)
ZNF143 (zinc finger protein 143)
EnsemblGeneIds (GRCh38): ENSG00000166478
EnsemblGeneIds (GRCh37): ENSG00000166478
OMIM: 603433, Gene2Phenotype
ZNF143 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Only a single case with biallelic variants reported. However, given a Moderate gene-disease validity classification by the General Inborn Errors of Metabolism GCEP (assessed 05/03/2024). The gene-disease relationship is also supported by biochemical evidence, functional alteration assays, model systems, and rescue experiments
Sources: Literature
Created: 2 Apr 2024, 11:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
methylmalonic aciduria and homocystinuria MONDO:0016826

Publications

Created: 2 Apr 2024, 11:11 a.m.

Panel version: 0.17

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with compound heterozygous variants.
Sources: Expert Review
Created: 9 Mar 2023, 6:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined methylmalonic acidemia and homocystinuria, cblX like 1, MONDO:0002012, ZNF143-related

Publications

Created: 9 Mar 2023, 6:36 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 1.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Red
  • Expert Review
Phenotypes
  • methylmalonic aciduria and homocystinuria MONDO:0016826
OMIM
603433
Clinvar variants
Variants in ZNF143
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: znf143 has been classified as Amber List (Moderate Evidence).

2 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: znf143 has been classified as Amber List (Moderate 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: ZNF143 was added gene: ZNF143 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF143 were set to 27349184; 33845046; 9009278; 22268977; 27349184; 27349184 Phenotypes for gene: ZNF143 were set to methylmalonic aciduria and homocystinuria MONDO:0016826 Review for gene: ZNF143 was set to AMBER