Cytopenia - NOT Fanconi anaemia
Gene: SRP54The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.
Panel Version: 1.57
Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - at least 28 unrelated cases with congenital neutropenia due to variants in SRP54Created: 28 Sep 2020, 2:20 p.m. | Last Modified: 28 Sep 2020, 2:20 p.m.
Panel Version: 1.14
Comment on publications: Added publications to support association with this phenotype.Created: 28 Sep 2020, 2:20 p.m. | Last Modified: 28 Sep 2020, 2:20 p.m.
Panel Version: 1.13
3 unrelated families presented with neutropaenia associated with other symptoms, including exocrine pancreatic deficiency and/or autistic behavior, phenotypic overlap with Swachman-Diamond syndrome.
Sources: Expert listCreated: 15 Sep 2020, 3:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndromic neutropenia with Shwachman-Diamond-like features
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: SRP54.
Source Expert Review Green was added to SRP54. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: srp54 has been classified as Amber List (Moderate Evidence).
Publications for gene: SRP54 were set to 28972538
Tag for-review tag was added to gene: SRP54.
Phenotypes for gene: SRP54 were changed from Syndromic neutropenia with Shwachman-Diamond-like features to Neutropenia, severe congenital, 8, autosomal dominant, 618752
gene: SRP54 was added gene: SRP54 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRP54 were set to 28972538 Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features Review for gene: SRP54 was set to GREEN gene: SRP54 was marked as current diagnostic