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Mendeliome v2.0 SRP68 Gene migrated from ENSG00000167881 to ENSG00000167881 (gene set migration)
Mendeliome v1.1268 SRP68 Zornitza Stark Marked gene: SRP68 as ready
Mendeliome v1.1268 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1268 SRP68 Zornitza Stark Classified gene: SRP68 as Amber List (moderate evidence)
Mendeliome v1.1268 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1267 SRP68 Zornitza Stark gene: SRP68 was added
gene: SRP68 was added to Mendeliome. 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
Added comment: 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 list