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| Cytopenia - NOT Fanconi anaemia v3.4 | SRPRA |
Hannah Knight gene: SRPRA was added gene: SRPRA was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRPRA were set to 36223592 Phenotypes for gene: SRPRA were set to Severe congenital neutropenia Review for gene: SRPRA was set to AMBER Added comment: PMID: 36223592 - A novel heterozygous de novo variant in SRPRA was found in 1 pedigree with 1 patient (p.Gln464Glu) - results in an amino acid exchange (glutamine to glutamic acid, position 464) in an alpha helix loop close to the GTPase active center known to mediate interaction with the cognate-binding partner, SRP54 (known cause of SCN) + functional studies Sources: Literature |
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| Cytopenia - NOT Fanconi anaemia v1.57 | SRP54 | Arina Puzriakova Tag for-review was removed from gene: SRP54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.57 | SRP54 | Arina Puzriakova commented on gene: SRP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.56 | SRP54 |
Arina Puzriakova Source Expert Review Green was added to SRP54. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v1.14 | SRP54 | Arina Puzriakova Classified gene: SRP54 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.14 | SRP54 | Arina Puzriakova Added comment: 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 SRP54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.14 | SRP54 | Arina Puzriakova Gene: srp54 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.13 | SRP54 | Arina Puzriakova Added comment: Comment on publications: Added publications to support association with this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.13 | SRP54 | Arina Puzriakova Publications for gene: SRP54 were set to 28972538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.12 | SRP54 | Arina Puzriakova Tag for-review tag was added to gene: SRP54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.12 | SRP54 | Arina Puzriakova Phenotypes for gene: SRP54 were changed from Syndromic neutropenia with Shwachman-Diamond-like features to Neutropenia, severe congenital, 8, autosomal dominant, 618752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | SRP54 |
Zornitza Stark 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 Added comment: 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 list |
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