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Gene: CHM

I don't know

Established gene-disease association

X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. In male patients with choroideremia, night blindness and visual field loss begin in the first decade of life and progress until legal blindness develops much later in life, around the fifth to seventh decade.

HGNC approved symbol/name: CHM

Is the phenotype(s) severe and onset <18yo ? Y early onset/ unsure severity

Known technical challenges? N

Created: 21 Aug 2024, 12:20 a.m. | Last Modified: 21 Aug 2024, 12:20 a.m.

Panel Version: 1.187

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; MONDO:0010557

Publications

• 31021898
• 27506488
• 27820636
• 33110609

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)

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

• 33110609
• 27820636