Phagocyte Defects
Gene: SRP68EnsemblGeneIds (GRCh38): ENSG00000167881
EnsemblGeneIds (GRCh37): ENSG00000167881
OMIM: 604858, Gene2Phenotype
SRP68 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided.
Sources: Expert listCreated: 6 Oct 2023, 1:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534
- OMIM
- 604858
- Clinvar variants
- Variants in SRP68
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: srp68 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: srp68 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SRP68 was added gene: SRP68 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRP68 were set to 32273475 Phenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534 Review for gene: SRP68 was set to AMBER