CLCN7

chloride voltage-gated channel 7
OMIM: 602727, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber CLCN7 in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Red CLCN7 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780 Osteopetrosis, autosomal recessive 4 OPTB4, MIM#602727
Green CLCN7 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CLCN7 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Osteopetrosis, autosomal recessive 4, MIM# 611490 Tags treatable
Green CLCN7 in Osteopetrosis Level 2: Skeletal disorders Version 0.38	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 4, MIM#611490 Tags treatable
Amber CLCN7 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.23 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Green CLCN7 in Defects of intrinsic and innate immunity Level 2: Immunological disorders Version 1.20 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 4 MIM#611490
Amber CLCN7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Green CLCN7 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 4 611490 Osteopetrosis, autosomal dominant 2 166600 Tags treatable
Green CLCN7 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 4, 611490 (3)
Green CLCN7 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Osteopetrosis, autosomal recessive 4, MIM# 611490
Green CLCN7 in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Osteopetrosis, autosomal recessive 4, MIM# 611490
Green CLCN7 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 4, 611490 (3)
Green CLCN7 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Osteopetrosis, autosomal recessive 4, MIM# 611490 Tags treatable skeletal
Green CLCN7 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 4, MIM#611490