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Cytopenia - NOT Fanconi anaemia v4.25 RAP1B Arina Puzriakova Phenotypes for gene: RAP1B were changed from Syndromic intellectual disability; cytopenia to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654; Syndromic intellectual disability; Cytopenia
Cytopenia - NOT Fanconi anaemia v3.36 RAP1B Eleanor Williams Tag Q4_23_promote_green was removed from gene: RAP1B.
Tag Q4_23_NHS_review was removed from gene: RAP1B.
Cytopenia - NOT Fanconi anaemia v3.36 RAP1B Eleanor Williams changed review comment from: The rating of this gene has been updated togreen and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v3.36 RAP1B Eleanor Williams reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v3.35 RAP1B Eleanor Williams Source Expert Review Green was added to RAP1B.
Source NHS GMS was added to RAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v3.10 RAP1B Achchuthan Shanmugasundram Tag watchlist was removed from gene: RAP1B.
Tag Q4_23_promote_green tag was added to gene: RAP1B.
Tag Q4_23_NHS_review tag was added to gene: RAP1B.
Cytopenia - NOT Fanconi anaemia v3.10 RAP1B Achchuthan Shanmugasundram Classified gene: RAP1B as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v3.10 RAP1B Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases with cytopenia and hence this gene can be promoted to green rating in the next GMS review.

This gene has been associated with relevant phenotype in Gene2Phenotype database (with 'limited' rating in the DD panel), but not yet been associated with phenotypes in OMIM.
Cytopenia - NOT Fanconi anaemia v3.10 RAP1B Achchuthan Shanmugasundram Gene: rap1b has been classified as Amber List (Moderate Evidence).
Cytopenia - NOT Fanconi anaemia v3.9 RAP1B Achchuthan Shanmugasundram Publications for gene: RAP1B were set to 32627184; 26280580
Cytopenia - NOT Fanconi anaemia v3.8 RAP1B Achchuthan Shanmugasundram Mode of inheritance for gene: RAP1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v3.7 RAP1B Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32627184, 35451551; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v3.2 RAP1B Hannah Knight reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35451551; Phenotypes: Syndromic thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v1.34 RAP1B Ivone Leong Classified gene: RAP1B as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.34 RAP1B Ivone Leong Gene: rap1b has been classified as Amber List (Moderate Evidence).
Cytopenia - NOT Fanconi anaemia v1.33 RAP1B Ivone Leong gene: RAP1B was added
gene: RAP1B was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
watchlist tags were added to gene: RAP1B.
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAP1B were set to 32627184; 26280580
Phenotypes for gene: RAP1B were set to Syndromic intellectual disability; cytopenia
Review for gene: RAP1B was set to AMBER
Added comment: This gene is associated with a phenotype in Gene2Phenotype but not OMIM.

PMID: 32627184 describes 2 patients.
36 yo patient of non-consanguineous parents. Had unclear pancytopenia, multiple congenital malformations, mild intellectual disability, endocrine disorders (short stature with growth hormone deficiency), dysmorphism and other features. Parents and sibling unaffected.
13 yo of non-consanguineous parents with thrombocytopenia, multiple congenital anomalies and learning difficulties. He had normal developmental milestones, walk was achieved at 14 months and there was no speech delay. He attended mainstream school with auxiliary help because of learning difficulties with graphism, syntaxic comprehension, logical reasoning and attention deficit. Parents and siblings unaffected.

PMID: 26280580 describes another patient with variant in RAP1B. The clinical features can be found in supplementary table 2. The table lists ID, but doesn't say severity and lists a host of other features including short stature, facial dysmorphism and skeletal findings. Cytopenia is not a feature for this patient.

All 3 cases seem to have a very wide spectrum of differing phenotypes and therefore, this gene has been given an Amber rating until further evidence is available.
Sources: Literature