Lysosomal Storage Disorder
Gene: CLCN7EnsemblGeneIds (GRCh38): ENSG00000103249
EnsemblGeneIds (GRCh37): ENSG00000103249
OMIM: 602727, Gene2Phenotype
CLCN7 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.
Bi-allelic variants in this gene are associated with osteopetrosis.
Sources: LiteratureCreated: 4 Dec 2021, 12:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
- OMIM
- 602727
- Clinvar variants
- Variants in CLCN7
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Ocular and Oculocutaneous Albinism
- Defects of intrinsic and innate immunity
- Prepair 1000+
- BabyScreen+ newborn screening
- Osteopetrosis
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLCN7 was added gene: CLCN7 was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLCN7 were set to 31155284 Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CLCN7 was set to AMBER