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Prepair 1000+

Gene: CHM

Red List (low evidence)

CHM (CHM, Rab escort protein 1)
EnsemblGeneIds (GRCh38): ENSG00000188419
EnsemblGeneIds (GRCh37): ENSG00000188419
OMIM: 300390, Gene2Phenotype
CHM is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variable age of onset and severity, not suitable for reproductive carrier screen. R/V ZS/AY/SL/AA/CL/JM.
Created: 11 Aug 2022, 7:03 a.m. | Last Modified: 11 Aug 2022, 7:03 a.m.
Panel Version: 0.110

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

Phenotypes
Choroideremia (MIM#303100)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene disease association. Phenotype severity and age of onset can be highly variable; no obvious genotype-phenotype correlation (PMID: 27820636)

Consider for exclusion on phenotype grounds
Created: 19 Jul 2022, 1:02 a.m. | Last Modified: 19 Jul 2022, 1:02 a.m.
Panel Version: 0.50

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Choroideremia (MIM#303100)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Choroideremia (MIM#303100)
OMIM
300390
Clinvar variants
Variants in CHM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Aug 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia (MIM#303100)

11 Aug 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia

11 Aug 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHM were set to 33110609; 27820636

11 Aug 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHM were set to

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: CHM.

20 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: CHM.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHM was added gene: CHM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia