Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CHD7 variants have been reported in individuals with IHH/KS with or without other features suggestive of mild CHARGE syndrome. However, note at least one of the variants is also present in the population. Conversely, gonadotrophin deficiency is a recognised feature of CHARGE syndrome. Overall, unlikely to present with POI/POF however.Created: 13 Dec 2020, 6:24 a.m. | Last Modified: 13 Dec 2020, 6:24 a.m.
Panel Version: 0.170
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Hypogonadotropic hypogonadism 5 with or without anosmia 612370
- CHARGE syndrome 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Combined Immunodeficiency
- Clefting disorders
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Craniosynostosis
- Deafness_Isolated
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Choanal atresia
- Mendeliome
- Congenital diaphragmatic hernia
- Callosome
- Growth failure
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd7 has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CHD7 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CHD7 was added gene: CHD7 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia 612370; CHARGE syndrome 214800