CHM

CHM, Rab escort protein 1
OMIM: 300390, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CHM in Mendeliome Version 1.1902	review	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
Green CHM in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.147 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	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 Royal Melbourne Hospital Phenotypes Retinitis pigmentosa Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Green CHM in Congenital Stationary Night Blindness Level 2: Ophthalmological disorders Version 0.23 Component of the following Super Panels: Retinal Disorders Superpanel	review	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 Royal Melbourne Hospital Phenotypes Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Green CHM in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Choroideremia
Green CHM in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Choroideremia
Red CHM in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Choroideremia (MIM#303100)
Red CHM in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Choroideraemia MIM#303100