Monogenic short stature
Gene: CHD7
CHD7 (chromodomain helicase DNA binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation
- CHARGE syndrome, 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Clefting
- CAKUT
- Deafness and congenital structural abnormalities
- Primary lymphoedema
- Differences in sex development
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Ocular coloboma
- Intellectual disability
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Choanal atresia
- Fetal anomalies
- Structural eye disease
- Monogenic hearing loss
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- Hypogonadotropic hypogonadism
- Pituitary hormone deficiency
- IUGR and IGF abnormalities
- Monogenic short stature
- Unexplained young onset end-stage renal disease - additional genes
- DDG2P
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: CHD7 was added gene: CHD7 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD7 were set to 16400610 Phenotypes for gene: CHD7 were set to CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation; CHARGE syndrome, 214800