Cerebral Palsy
Gene: CLCN7EnsemblGeneIds (GRCh38): ENSG00000103249
EnsemblGeneIds (GRCh37): ENSG00000103249
OMIM: 602727, Gene2Phenotype
CLCN7 is in 15 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with homozygous splice variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Bi-allelic variants have been reported to cause osteopetrosis.
Sources: LiteratureCreated: 27 May 2024, 4:49 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780; Osteopetrosis, autosomal recessive 4; OPTB4, MIM#602727
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780
- Osteopetrosis, autosomal recessive 4
- OPTB4, MIM#602727
- OMIM
- 602727
- Clinvar variants
- Variants in CLCN7
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn7 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: CLCN7 was added gene: CLCN7 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to PMID: 38693247 Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780; Osteopetrosis, autosomal recessive 4; OPTB4, MIM#602727 Review for gene: CLCN7 was set to RED