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  3. CHCHD2
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Incidentalome

Gene: CHCHD2

Green List (high evidence)
CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000106153
EnsemblGeneIds (GRCh37): ENSG00000106153
OMIM: 616244, Gene2Phenotype
CHCHD2 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Adult-onset neurodegenerative disorder. Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.
Sources: Expert list
Created: 24 Mar 2020, 10:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Parkinson disease 22, autosomal dominant MIM#616710

Publications

Created: 24 Mar 2020, 10:49 p.m.

Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinson disease 22, autosomal dominant MIM#616710
Tags
adult onset neurodegenerative
OMIM
616244
Clinvar variants
Variants in CHCHD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chchd2 has been classified as Green List (High Evidence).

21 Aug 2023, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag adult onset neurodegenerative tag was added to gene: CHCHD2.

24 Mar 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778

24 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chchd2 has been classified as Green List (High Evidence).

24 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CHCHD2 was added gene: CHCHD2 was added to Incidentalome. Sources: Expert list Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778 Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710 Review for gene: CHCHD2 was set to GREEN