Osteopetrosis
Gene: CLCN7EnsemblGeneIds (GRCh38): ENSG00000103249
EnsemblGeneIds (GRCh37): ENSG00000103249
OMIM: 602727, Gene2Phenotype
CLCN7 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 4 unrelated cases reported, and a supporting mouse model. Impaired osteoclast (derived from myeloid/monocyte lineage) function is a feature of the condition.
Sources: Expert listCreated: 19 Mar 2021, 1:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 4 MIM#611490
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Osteopetrosis, autosomal recessive 4, MIM#611490
- Tags
- OMIM
- 602727
- Clinvar variants
- Variants in CLCN7
- Penetrance
- None
- Publications
- 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLCN7 were changed from to Osteopetrosis, autosomal recessive 4, MIM#611490
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CLCN7 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CLCN7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CLCN7.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLCN7 was added gene: CLCN7 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLCN7 was set to Unknown