Metaphyseal dysplasias
Gene: SRP54
SRP54 (signal recognition particle 54)
EnsemblGeneIds (GRCh38): ENSG00000100883
EnsemblGeneIds (GRCh37): ENSG00000100883
OMIM: 604857, Gene2Phenotype
SRP54 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000100883
EnsemblGeneIds (GRCh37): ENSG00000100883
OMIM: 604857, Gene2Phenotype
SRP54 is in 8 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
Metaphyseal abnormalities are a known feature of SBDS but whether they are a consistent feature in SRP54-related SBDS-like syndrome is unclear.Created: 26 May 2020, 12:53 p.m. | Last Modified: 26 May 2020, 12:53 p.m.
Panel Version: 0.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SBDS-like; severe congenital neutropenia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- SCN8
- 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
- OMIM
- 604857
- Clinvar variants
- Variants in SRP54
- Penetrance
- None
- Panels with this gene
History Filter Activity
26 May 2020, Gel status: 2
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: srp54 has been classified as Amber List (Moderate Evidence).
26 May 2020, Gel status: 3
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: srp54 has been classified as Green List (High Evidence).
26 May 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: SRP54 was added gene: SRP54 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SRP54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRP54 were set to SCN8; 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT