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Mendeliome

Gene: IDH3B

Green List (high evidence)

IDH3B (isocitrate dehydrogenase 3 (NAD(+)) beta)
EnsemblGeneIds (GRCh38): ENSG00000101365
EnsemblGeneIds (GRCh37): ENSG00000101365
OMIM: 604526, Gene2Phenotype
IDH3B is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported in 2008, and a further report in 2020 as part of a large Mexican cohort. Borderline Amber/Green.
Created: 15 Mar 2022, 6:05 a.m. | Last Modified: 15 Mar 2022, 6:05 a.m.
Panel Version: 0.11411

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 46, MIM# 612572

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, MIM# 612572
OMIM
604526
Clinvar variants
Variants in IDH3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idh3b has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IDH3B were changed from to Retinitis pigmentosa 46, MIM# 612572

15 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IDH3B were set to

15 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDH3B was added gene: IDH3B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDH3B was set to Unknown