Craniosynostosis
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
1 review
Ee Ming Wong (Victorian Clinical Genetics Services)
- Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: LiteratureCreated: 7 Jan 2022, 3:38 a.m. | Last Modified: 7 Jan 2022, 3:47 a.m.
Panel Version: 1.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- CHARGE syndrome, MIM#214800
- bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- 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
Seb Lunke (Victorian Clinical Genetics Services)Gene: chd7 has been classified as Green List (High Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: CHD7 were changed from CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures to CHARGE syndrome, MIM#214800; bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: chd7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ee Ming Wong (Victorian Clinical Genetics Services)gene: CHD7 was added gene: CHD7 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD7 were set to PMID: 33844462; 30498854; 33288889 Phenotypes for gene: CHD7 were set to CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures Penetrance for gene: CHD7 were set to Complete Review for gene: CHD7 was set to GREEN gene: CHD7 was marked as current diagnostic