Craniosynostosis
Gene: DPH1EnsemblGeneIds (GRCh38): ENSG00000108963
EnsemblGeneIds (GRCh37): ENSG00000108963
OMIM: 603527, Gene2Phenotype
DPH1 is in 6 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
Comment on list classification: I agree!Created: 3 Jun 2020, 11:45 a.m. | Last Modified: 3 Jun 2020, 11:45 a.m.
Panel Version: 0.27
Multiple sibs from two unrelated families with DEDSSH syndrome, of which craniosynostosis was a component in some affected individuals.
Sources: LiteratureCreated: 3 Jun 2020, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
- OMIM
- 603527
- Clinvar variants
- Variants in DPH1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: dph1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: dph1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: DPH1 was added gene: DPH1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPH1 were set to 25558065; 26220823 Phenotypes for gene: DPH1 were set to 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR Penetrance for gene: DPH1 were set to Complete Review for gene: DPH1 was set to AMBER