Defects of intrinsic and innate immunity
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
- Phenotypes
-
- Osteopetrosis, autosomal recessive 4 MIM#611490
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: clcn7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: clcn7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CLCN7 was added gene: CLCN7 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to 11207362; 15231021; 17033731; 19507210; 32048120 Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 MIM#611490 Review for gene: CLCN7 was set to GREEN