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Mendeliome

Gene: CHM

Green List (high evidence)

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association

From GeneReviews:

Heterozygous females are generally asymptomatic; however, signs of retinal pigment epithelial depigmentation or atrophy can be observed with careful fundus examination. These signs become more readily apparent after the second decade. Night blindness and visual field loss can also develop later in life due to expanding areas of retinal pigment epithelial atrophy.
Created: 26 Apr 2022, 3:17 a.m. | Last Modified: 26 Apr 2022, 3:17 a.m.
Panel Version: 0.13298

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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Choroideremia MIM#303100
OMIM
300390
Clinvar variants
Variants in CHM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

26 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CHM were set to

26 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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

26 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CHM was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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