Cytopenia - NOT Fanconi anaemia
Gene: SRP19
Comment on list classification: As reviewed by Hannah Knight, there are two related families with severe congenital neutropenia and functional studies in support of this association. Hence, this gene can be rated amber with current evidence.Created: 10 Nov 2023, 2:54 p.m. | Last Modified: 10 Nov 2023, 2:54 p.m.
Panel Version: 3.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe congenital neutropenia, MONDO:0018542
PMID: 36223592 - a novel homozygous variant in SRP19 was identified in 2 related pedigrees with 5 patients affected (c.189+5G>A) + functional studies
Sources: LiteratureCreated: 13 Oct 2023, 10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe congenital neutropenia
Publications
Gene: srp19 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SRP19 were changed from Severe congenital neutropenia to severe congenital neutropenia, MONDO:0018542
gene: SRP19 was added gene: SRP19 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRP19 were set to 36223592 Phenotypes for gene: SRP19 were set to Severe congenital neutropenia Review for gene: SRP19 was set to AMBER