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Cytopenia - NOT Fanconi anaemia v3.31 RRAS Sarah Leigh Tag Q2_24_promote_green tag was added to gene: RRAS.
Cytopenia - NOT Fanconi anaemia v3.21 DUT Arina Puzriakova Tag Q4_23_NHS_review was removed from gene: DUT.
Cytopenia - NOT Fanconi anaemia v3.21 DUT Arina Puzriakova gene: DUT was added
gene: DUT was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert Review Amber,Literature
Q4_23_promote_green, Q4_23_NHS_review tags were added to gene: DUT.
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808; 35931051
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044
Cytopenia - NOT Fanconi anaemia v3.20 TUBA8 Hannah Knight gene: TUBA8 was added
gene: TUBA8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA8 were set to 34704371
Phenotypes for gene: TUBA8 were set to Macrothrombocytopenia, isolated, 2, autosomal dominant
Review for gene: TUBA8 was set to AMBER
Added comment: PMID: 34704371 (2022) identified rare variants in this gene in patients with macrothrombocytopenia. Associated with a phenotype on OMIM
Sources: Literature
Cytopenia - NOT Fanconi anaemia v3.20 TUBA4A Hannah Knight gene: TUBA4A was added
gene: TUBA4A was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 30760556
Phenotypes for gene: TUBA4A were set to Thrombocytopenia
Review for gene: TUBA4A was set to RED
Added comment: Linked to thrombocytopenia (PMID: 30760556, 2019) - only one patient reported
Sources: Literature
Cytopenia - NOT Fanconi anaemia v3.13 TCIRG1 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: TCIRG1.
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 v3.8 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 v3.4 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Cytopenia - NOT Fanconi anaemia v3.4 SRP19 Hannah Knight 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
Added comment: 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: Literature
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
Cytopenia - NOT Fanconi anaemia v3.4 SEC61A1 Hannah Knight gene: SEC61A1 was added
gene: SEC61A1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 32325141; 27392076
Phenotypes for gene: SEC61A1 were set to Severe congenital neutropenia; Tubulointerstitial kidney disease, autosomal dominant, 5
Review for gene: SEC61A1 was set to AMBER
Added comment: PMID: 32325141 - reported a patient with a de novo variant in this gene, presenting with severe congenital neutropenia and recurrent infections
PMID: 27392076 - neutropenia previously reported in a father and daughter with tubulointerstitial kidney disease due to a heterozygous SEC61A1 variant
Sources: Literature
Cytopenia - NOT Fanconi anaemia v3.2 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CXCR2.
Cytopenia - NOT Fanconi anaemia v3.2 CXCR2 Hannah Knight gene: CXCR2 was added
gene: CXCR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453; 34854278
Phenotypes for gene: CXCR2 were set to ?WHIM syndrome 2
Review for gene: CXCR2 was set to GREEN
Added comment: Five patients reported with biallelic variants. 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene (PMID: 24777453). Of other four patients, one had biallelic null variants and presented with neutropenia and myelokathexis (PMID: 34854278). Others all had biallelic missense variants, and presented with neutropenia
Sources: Literature
Cytopenia - NOT Fanconi anaemia v3.2 TCIRG1 Hannah Knight gene: TCIRG1 was added
gene: TCIRG1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCIRG1 were set to 24753205
Phenotypes for gene: TCIRG1 were set to Congenital neutropenia
Penetrance for gene: TCIRG1 were set to unknown
Review for gene: TCIRG1 was set to AMBER
Added comment: A specific, novel variant in TCIRG1 (R736S) identified as the probable cause for SCN in a large multigenerational family through exome sequencing (Makaryan et al. 2014 - PMID 24753205)
In 2022, a new family identified in Taiwan to have a variant affecting the same amino acid (R736C) - https://doi.org/10.1182/blood-2022-159214
Sources: Literature
Cytopenia - NOT Fanconi anaemia v2.3 RPL27 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPL27.
Tag Q3_22_expert_review was removed from gene: RPL27.
Cytopenia - NOT Fanconi anaemia v2.3 GP1BB Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: GP1BB.
Cytopenia - NOT Fanconi anaemia v2.3 RPA1 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: RPA1.
Cytopenia - NOT Fanconi anaemia v2.3 MPL Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: MPL.
Tag Q2_22_expert_review was removed from gene: MPL.
Cytopenia - NOT Fanconi anaemia v2.3 KLF1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: KLF1.
Cytopenia - NOT Fanconi anaemia v2.3 CLPB Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: CLPB.
Cytopenia - NOT Fanconi anaemia v2.2 RPA1 Achchuthan Shanmugasundram Source Expert Review Green was added to RPA1.
Source NHS GMS was added to RPA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v2.2 MPL Achchuthan Shanmugasundram Mode of inheritance for gene MPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v2.2 KLF1 Achchuthan Shanmugasundram Mode of inheritance for gene KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v2.2 CLPB Achchuthan Shanmugasundram Source Expert Review Green was added to CLPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v2.1 RRAS Dmitrijs Rots gene: RRAS was added
gene: RRAS was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS were set to PMID: 34935735
Phenotypes for gene: RRAS were set to Pediatric Myelodysplastic Syndrome
Penetrance for gene: RRAS were set to unknown
Mode of pathogenicity for gene: RRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RRAS was set to GREEN
Added comment: 34935735 describes a new case and provides info from 3 cases from the literature with RASopathy AND pediatric MDS. Only de novo missense variants were found. Therefore, enough evidence for green rating.
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.72 RPL27 Eleanor Williams Tag Q2_21_expert_review was removed from gene: RPL27.
Tag Q3_22_rating tag was added to gene: RPL27.
Tag Q3_22_expert_review tag was added to gene: RPL27.
Cytopenia - NOT Fanconi anaemia v1.69 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Cytopenia - NOT Fanconi anaemia v1.67 GP1BB Arina Puzriakova Tag Q2_22_rating tag was added to gene: GP1BB.
Cytopenia - NOT Fanconi anaemia v1.67 GP1BB Arina Puzriakova Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v1.66 GP1BB Arina Puzriakova Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v1.63 MPL Arina Puzriakova Mode of inheritance for gene: MPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v1.62 MPL Arina Puzriakova Tag Q2_22_MOI tag was added to gene: MPL.
Tag Q2_22_expert_review tag was added to gene: MPL.
Cytopenia - NOT Fanconi anaemia v1.60 RPA1 Arina Puzriakova Tag Q2_22_rating tag was added to gene: RPA1.
Cytopenia - NOT Fanconi anaemia v1.60 RPA1 Arina Puzriakova Penetrance for gene RPA1 was set from to unknown
Cytopenia - NOT Fanconi anaemia v1.57 RPL31 Arina Puzriakova Tag for-review was removed from gene: RPL31.
Cytopenia - NOT Fanconi anaemia v1.57 RPL9 Arina Puzriakova Tag for-review was removed from gene: RPL9.
Cytopenia - NOT Fanconi anaemia v1.57 KIF23 Arina Puzriakova Tag for-review was removed from gene: KIF23.
Cytopenia - NOT Fanconi anaemia v1.57 RPL26 Arina Puzriakova Tag for-review was removed from gene: RPL26.
Cytopenia - NOT Fanconi anaemia v1.57 STN1 Arina Puzriakova Tag for-review was removed from gene: STN1.
Cytopenia - NOT Fanconi anaemia v1.57 SRP54 Arina Puzriakova Tag for-review was removed from gene: SRP54.
Cytopenia - NOT Fanconi anaemia v1.57 AK2 Arina Puzriakova Tag for-review was removed from gene: AK2.
Cytopenia - NOT Fanconi anaemia v1.57 DDX41 Arina Puzriakova Tag for-review was removed from gene: DDX41.
Cytopenia - NOT Fanconi anaemia v1.57 NHP2 Arina Puzriakova Tag for-review was removed from gene: NHP2.
Cytopenia - NOT Fanconi anaemia v1.57 MYSM1 Arina Puzriakova Tag for-review was removed from gene: MYSM1.
Cytopenia - NOT Fanconi anaemia v1.57 EFL1 Arina Puzriakova Tag for-review was removed from gene: EFL1.
Cytopenia - NOT Fanconi anaemia v1.56 RPL31 Arina Puzriakova Source Expert Review Amber was added to RPL31.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 RPL26 Arina Puzriakova Source Expert Review Red was added to RPL26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v1.56 KIF23 Arina Puzriakova Source Expert Review Amber was added to KIF23.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 RPL9 Arina Puzriakova Source Expert Review Amber was added to RPL9.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 STN1 Arina Puzriakova Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
Cytopenia - NOT Fanconi anaemia v1.56 AK2 Arina Puzriakova Source Expert Review Green was added to AK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 DDX41 Arina Puzriakova Source Expert Review Green was added to DDX41.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 NHP2 Arina Puzriakova Source Expert Review Green was added to NHP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 MYSM1 Arina Puzriakova Source Expert Review Green was added to MYSM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.55 KLF1 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: KLF1.
Cytopenia - NOT Fanconi anaemia v1.55 KLF1 Arina Puzriakova Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v1.48 POLR2C Ivone Leong Tag watchlist was removed from gene: POLR2C.
Cytopenia - NOT Fanconi anaemia v1.48 POLR2C Ivone Leong gene: POLR2C was added
gene: POLR2C was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: POLR2C.
Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2C were set to 34794894; 29367954
Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency
Cytopenia - NOT Fanconi anaemia v1.47 CLPB Arina Puzriakova Tag Q4_21_rating tag was added to gene: CLPB.
Cytopenia - NOT Fanconi anaemia v1.47 CLPB Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but should be made Green at the next GMS panel update.

Neutropenia is often reported and can be a severe and early feature, sometimes present from birth. Neutropenia was observed in at least 11 biallelic cases and 5 monoallelic cases which is sufficient for a Green rating under the MOI 'Both mono- and biallelic'
Cytopenia - NOT Fanconi anaemia v1.45 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v1.43 RPA1 Dmitrijs Rots gene: RPA1 was added
gene: RPA1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPA1 were set to bone marrow failure; T- and B-cell lymphopenia; pulmonary fibrosis; skin manifestations.
Penetrance for gene: RPA1 were set to unknown
Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RPA1 was set to GREEN
Added comment: 4 cases with gain of function mutations with "including bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopenia, pulmonary fibrosis, or skin manifestations." described in
https://doi.org/10.1182/blood.2021011980
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.42 FLNA Arina Puzriakova Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cytopenia - NOT Fanconi anaemia v1.40 ACD Ivone Leong Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v1.38 ACD Arina Puzriakova Added comment: Comment on list classification: Only two families with DC who have variants in ACD have been reported since 2015 - one family with AD inheritance had only progressive bone marrow failure (PMID: 25205116) and one patient (patient B) with AR inheritance had a more severe phenotype (PMID: 25233904). However, this gene was rated Green on this and other panels following external clinical review - so this rating will be maintained at this time.
Cytopenia - NOT Fanconi anaemia v1.36 RPL27 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: RPL27.
Cytopenia - NOT Fanconi anaemia v1.34 RPL31 Arina Puzriakova Tag for-review tag was added to gene: RPL31.
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
Cytopenia - NOT Fanconi anaemia v1.31 STN1 Sarah Leigh gene: STN1 was added
gene: STN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
for-review tags were added to gene: STN1.
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940; 32627942
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
Review for gene: STN1 was set to GREEN
Added comment: Comments from Zornitza Stark (Australian Genomics) Three individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. Gene belongs on multiple panels.
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.30 RPL9 Arina Puzriakova Tag for-review tag was added to gene: RPL9.
Cytopenia - NOT Fanconi anaemia v1.28 EFL1 Catherine Snow Tag for-review tag was added to gene: EFL1.
Cytopenia - NOT Fanconi anaemia v1.26 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS20 were set to 32790018
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
Review for gene: RPS20 was set to AMBER
Added comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype.
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.25 RPL26 Arina Puzriakova Tag for-review tag was added to gene: RPL26.
Cytopenia - NOT Fanconi anaemia v1.21 NHP2 Arina Puzriakova Tag for-review tag was added to gene: NHP2.
Cytopenia - NOT Fanconi anaemia v1.17 MYSM1 Arina Puzriakova Tag for-review tag was added to gene: MYSM1.
Cytopenia - NOT Fanconi anaemia v1.17 KIF23 Arina Puzriakova Tag for-review tag was added to gene: KIF23.
Cytopenia - NOT Fanconi anaemia v1.14 DDX41 Arina Puzriakova Tag for-review tag was added to gene: DDX41.
Cytopenia - NOT Fanconi anaemia v1.12 SRP54 Arina Puzriakova Tag for-review tag was added to gene: SRP54.
Cytopenia - NOT Fanconi anaemia v1.11 NPM1 Arina Puzriakova Mode of inheritance for gene: NPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Cytopenia - NOT Fanconi anaemia v1.6 AK2 Arina Puzriakova Tag for-review tag was added to gene: AK2.
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
Cytopenia - NOT Fanconi anaemia v1.6 NPM1 Zornitza Stark gene: NPM1 was added
gene: NPM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Review for gene: NPM1 was set to GREEN
gene: NPM1 was marked as current diagnostic
Added comment: Two unrelated individuals with a dyskeratosis congenita phenotype and extensive functional data to support gene-disease relationship.
Sources: Expert list
Cytopenia - NOT Fanconi anaemia v1.6 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043416
Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500
Review for gene: AK2 was set to GREEN
gene: AK2 was marked as current diagnostic
Added comment: Well established gene-disease association.
Sources: Expert list
Cytopenia - NOT Fanconi anaemia v0.136 VWF Louise Daugherty Source Expert Review Red was added to VWF.
Cytopenia - NOT Fanconi anaemia v0.136 VPS13B Louise Daugherty Source Expert Review Red was added to VPS13B.
Cytopenia - NOT Fanconi anaemia v0.136 TUBB1 Louise Daugherty Source Expert Review Amber was added to TUBB1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 TCN2 Louise Daugherty Source Expert Review Amber was added to TCN2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 STK4 Louise Daugherty Source Expert Review Red was added to STK4.
Cytopenia - NOT Fanconi anaemia v0.136 STIM1 Louise Daugherty Source Expert Review Amber was added to STIM1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 SRC Louise Daugherty Source Expert Review Green was added to SRC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.136 SLFN14 Louise Daugherty Source Expert Review Amber was added to SLFN14.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 RUNX1 Louise Daugherty Source Expert Review Amber was added to RUNX1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 RNU4ATAC Louise Daugherty Source Expert Review Red was added to RNU4ATAC.
Cytopenia - NOT Fanconi anaemia v0.136 RBM8A Louise Daugherty Source Expert Review Red was added to RBM8A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.136 PTPN11 Louise Daugherty Source Expert Review Red was added to PTPN11.
Cytopenia - NOT Fanconi anaemia v0.136 PSMB8 Louise Daugherty Source Expert Review Red was added to PSMB8.
Cytopenia - NOT Fanconi anaemia v0.136 NBEAL2 Louise Daugherty Source Expert Review Amber was added to NBEAL2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 MYH9 Louise Daugherty Source Expert Review Amber was added to MYH9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 MTHFD1 Louise Daugherty Source Expert Review Red was added to MTHFD1.
Cytopenia - NOT Fanconi anaemia v0.136 MSN Louise Daugherty Source Expert Review Red was added to MSN.
Cytopenia - NOT Fanconi anaemia v0.136 MPIG6B Louise Daugherty Source Expert Review Red was added to MPIG6B.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.136 LYST Louise Daugherty Source Expert Review Red was added to LYST.
Cytopenia - NOT Fanconi anaemia v0.136 LAMTOR2 Louise Daugherty Source Expert Review Red was added to LAMTOR2.
Cytopenia - NOT Fanconi anaemia v0.136 KDSR Louise Daugherty Source Expert Review Red was added to KDSR.
Cytopenia - NOT Fanconi anaemia v0.136 ITGB3 Louise Daugherty Source Expert Review Red was added to ITGB3.
Cytopenia - NOT Fanconi anaemia v0.136 ITGA2B Louise Daugherty Source Expert Review Red was added to ITGA2B.
Cytopenia - NOT Fanconi anaemia v0.136 HTRA2 Louise Daugherty Source Expert Review Red was added to HTRA2.
Cytopenia - NOT Fanconi anaemia v0.136 HOXA11 Louise Daugherty Source Expert Review Red was added to HOXA11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.136 GP9 Louise Daugherty Source Expert Review Amber was added to GP9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 GP1BB Louise Daugherty Source Expert Review Amber was added to GP1BB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 GP1BA Louise Daugherty Source Expert Review Amber was added to GP1BA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 GNE Louise Daugherty Source Expert Review Red was added to GNE.
Cytopenia - NOT Fanconi anaemia v0.136 GINS1 Louise Daugherty Source Expert Review Red was added to GINS1.
Cytopenia - NOT Fanconi anaemia v0.136 FLNA Louise Daugherty Source Expert Review Red was added to FLNA.
Cytopenia - NOT Fanconi anaemia v0.136 FLI1 Louise Daugherty Source Expert Review Amber was added to FLI1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 DIAPH1 Louise Daugherty Source Expert Review Red was added to DIAPH1.
Cytopenia - NOT Fanconi anaemia v0.136 CLPB Louise Daugherty Source Expert Review Red was added to CLPB.
Cytopenia - NOT Fanconi anaemia v0.136 CDC42 Louise Daugherty Source Expert Review Red was added to CDC42.
Cytopenia - NOT Fanconi anaemia v0.136 CD40LG Louise Daugherty Source Expert Review Red was added to CD40LG.
Cytopenia - NOT Fanconi anaemia v0.136 CD40 Louise Daugherty Source Expert Review Red was added to CD40.
Cytopenia - NOT Fanconi anaemia v0.136 ARPC1B Louise Daugherty Source Expert Review Red was added to ARPC1B.
Cytopenia - NOT Fanconi anaemia v0.136 AP3B1 Louise Daugherty Source Expert Review Amber was added to AP3B1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 ADAMTS13 Louise Daugherty Source Expert Review Amber was added to ADAMTS13.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 ACTN1 Louise Daugherty Source Expert Review Amber was added to ACTN1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 ACTB Louise Daugherty Source Expert Review Red was added to ACTB.
Cytopenia - NOT Fanconi anaemia v0.136 ABCG8 Louise Daugherty Source Expert Review Amber was added to ABCG8.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.136 ABCG5 Louise Daugherty Source Expert Review Amber was added to ABCG5.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.135 WAS Louise Daugherty edited their review of gene: WAS: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Wiskott-Aldrich syndrome, can present as neonatal thrombocytopenia; North West GLH: no comment submitted; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.; Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.135 TUBB1 Louise Daugherty commented on gene: TUBB1: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Macrothrombocytopenia, beta-tubulin 1 related; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted;London South GLH: no comment submitted.
Cytopenia - NOT Fanconi anaemia v0.135 STIM1 Louise Daugherty commented on gene: STIM1: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Stormorken syndrome (York platelet syndrome); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no commetn submitted; London South GLH: no comment submitted.
Cytopenia - NOT Fanconi anaemia v0.135 RUNX1 Louise Daugherty commented on gene: RUNX1: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Familial platelet disorder with predisposition to AML, typically presents with mild to moderate thrombocytopenia (normal sized platelets); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.
Cytopenia - NOT Fanconi anaemia v0.135 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Gray platelet syndrome; associated with low platelet count; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH:no comment submitted; London South GLH: no comment submitted.
Cytopenia - NOT Fanconi anaemia v0.135 MYH9 Louise Daugherty commented on gene: MYH9: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: May-Hegglin and other MYH9 disorders (macrothrombocytopenia plus other syndromic features); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.
Cytopenia - NOT Fanconi anaemia v0.135 GP1BA Louise Daugherty commented on gene: GP1BA: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Mild macrothrombocytopenia; North West GLH: Platelet type VWD, mild thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.
Cytopenia - NOT Fanconi anaemia v0.134 WAS Louise Daugherty Source Expert review Green was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.134 VWF Louise Daugherty Source Expert review Red was added to VWF.
Cytopenia - NOT Fanconi anaemia v0.134 VPS13B Louise Daugherty Source Expert review Red was added to VPS13B.
Cytopenia - NOT Fanconi anaemia v0.134 TUBB1 Louise Daugherty Source Expert review Amber was added to TUBB1.
Cytopenia - NOT Fanconi anaemia v0.134 THPO Louise Daugherty Source Expert review Green was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.134 TCN2 Louise Daugherty Source Expert review Amber was added to TCN2.
Cytopenia - NOT Fanconi anaemia v0.134 STK4 Louise Daugherty Source Expert review Red was added to STK4.
Cytopenia - NOT Fanconi anaemia v0.134 STIM1 Louise Daugherty Source Expert review Amber was added to STIM1.
Cytopenia - NOT Fanconi anaemia v0.134 SRC Louise Daugherty Source Expert review Green was added to SRC.
Cytopenia - NOT Fanconi anaemia v0.134 SMARCAL1 Louise Daugherty Source Expert review Red was added to SMARCAL1.
Cytopenia - NOT Fanconi anaemia v0.134 SLFN14 Louise Daugherty Source Expert review Amber was added to SLFN14.
Cytopenia - NOT Fanconi anaemia v0.134 SLC37A4 Louise Daugherty Source Expert review Red was added to SLC37A4.
Cytopenia - NOT Fanconi anaemia v0.134 RUNX1 Louise Daugherty Source Expert review Amber was added to RUNX1.
Cytopenia - NOT Fanconi anaemia v0.134 RNU4ATAC Louise Daugherty Source Expert review Red was added to RNU4ATAC.
Cytopenia - NOT Fanconi anaemia v0.134 RBM8A Louise Daugherty Source Expert review Red was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.134 PTPN11 Louise Daugherty Source Expert review Red was added to PTPN11.
Cytopenia - NOT Fanconi anaemia v0.134 PSMB8 Louise Daugherty Source Expert review Red was added to PSMB8.
Cytopenia - NOT Fanconi anaemia v0.134 NBEAL2 Louise Daugherty Source Expert review Amber was added to NBEAL2.
Cytopenia - NOT Fanconi anaemia v0.134 MYH9 Louise Daugherty Source Expert review Amber was added to MYH9.
Cytopenia - NOT Fanconi anaemia v0.134 MTHFD1 Louise Daugherty Source Expert review Red was added to MTHFD1.
Cytopenia - NOT Fanconi anaemia v0.134 MSN Louise Daugherty Source Expert review Red was added to MSN.
Cytopenia - NOT Fanconi anaemia v0.134 MPL Louise Daugherty Source Expert review Green was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.134 MPIG6B Louise Daugherty Source Expert review Red was added to MPIG6B.
Cytopenia - NOT Fanconi anaemia v0.134 MECOM Louise Daugherty Source Expert review Green was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.134 LYST Louise Daugherty Source Expert review Red was added to LYST.
Cytopenia - NOT Fanconi anaemia v0.134 LAMTOR2 Louise Daugherty Source Expert review Red was added to LAMTOR2.
Cytopenia - NOT Fanconi anaemia v0.134 KDSR Louise Daugherty Source Expert review Red was added to KDSR.
Cytopenia - NOT Fanconi anaemia v0.134 ITGB3 Louise Daugherty Source Expert review Red was added to ITGB3.
Cytopenia - NOT Fanconi anaemia v0.134 ITGA2B Louise Daugherty Source Expert review Red was added to ITGA2B.
Cytopenia - NOT Fanconi anaemia v0.134 HTRA2 Louise Daugherty Source Expert review Red was added to HTRA2.
Cytopenia - NOT Fanconi anaemia v0.134 HOXA11 Louise Daugherty Source Expert review Red was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.134 GP9 Louise Daugherty Source Expert review Amber was added to GP9.
Cytopenia - NOT Fanconi anaemia v0.134 GP1BB Louise Daugherty Source Expert review Amber was added to GP1BB.
Cytopenia - NOT Fanconi anaemia v0.134 GP1BA Louise Daugherty Source Expert review Amber was added to GP1BA.
Cytopenia - NOT Fanconi anaemia v0.134 GNE Louise Daugherty Source Expert review Red was added to GNE.
Cytopenia - NOT Fanconi anaemia v0.134 GINS1 Louise Daugherty Source Expert review Red was added to GINS1.
Cytopenia - NOT Fanconi anaemia v0.134 GFI1 Louise Daugherty Source Expert review Green was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.134 GATA1 Louise Daugherty Source Expert review Green was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.134 FYB1 Louise Daugherty Source Expert review Green was added to FYB1.
Cytopenia - NOT Fanconi anaemia v0.134 FLNA Louise Daugherty Source Expert review Red was added to FLNA.
Cytopenia - NOT Fanconi anaemia v0.134 FLI1 Louise Daugherty Source Expert review Amber was added to FLI1.
Cytopenia - NOT Fanconi anaemia v0.134 ETV6 Louise Daugherty Source Expert review Green was added to ETV6.
Cytopenia - NOT Fanconi anaemia v0.134 DIAPH1 Louise Daugherty Source Expert review Red was added to DIAPH1.
Cytopenia - NOT Fanconi anaemia v0.134 CYCS Louise Daugherty Source Expert review Green was added to CYCS.
Cytopenia - NOT Fanconi anaemia v0.134 CLPB Louise Daugherty Source Expert review Red was added to CLPB.
Cytopenia - NOT Fanconi anaemia v0.134 CDC42 Louise Daugherty Source Expert review Red was added to CDC42.
Cytopenia - NOT Fanconi anaemia v0.134 CD40LG Louise Daugherty Source Expert review Red was added to CD40LG.
Cytopenia - NOT Fanconi anaemia v0.134 CD40 Louise Daugherty Source Expert review Red was added to CD40.
Cytopenia - NOT Fanconi anaemia v0.134 ARPC1B Louise Daugherty Source Expert review Red was added to ARPC1B.
Cytopenia - NOT Fanconi anaemia v0.134 AP3B1 Louise Daugherty Source Expert review Amber was added to AP3B1.
Cytopenia - NOT Fanconi anaemia v0.134 ANKRD26 Louise Daugherty Source Expert review Green was added to ANKRD26.
Cytopenia - NOT Fanconi anaemia v0.134 ADAMTS13 Louise Daugherty Source Expert review Amber was added to ADAMTS13.
Cytopenia - NOT Fanconi anaemia v0.134 ACTN1 Louise Daugherty Source Expert review Amber was added to ACTN1.
Cytopenia - NOT Fanconi anaemia v0.134 ACTB Louise Daugherty Source Expert review Red was added to ACTB.
Cytopenia - NOT Fanconi anaemia v0.134 ABCG8 Louise Daugherty Source Expert review Amber was added to ABCG8.
Cytopenia - NOT Fanconi anaemia v0.134 ABCG5 Louise Daugherty Source Expert review Amber was added to ABCG5.
Cytopenia - NOT Fanconi anaemia v0.133 VWF Louise Daugherty Mode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554; von Willibrand disease, type 3, 277480; von Willebrand disease, type 1, 193400 for gene: VWF
Cytopenia - NOT Fanconi anaemia v0.133 VPS13B Louise Daugherty Mode of inheritance for gene VPS13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cohen syndrome, 216550 for gene: VPS13B
Cytopenia - NOT Fanconi anaemia v0.133 TCN2 Louise Daugherty Mode of inheritance for gene TCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Transcobalamin II deficiency, 275350 for gene: TCN2
Cytopenia - NOT Fanconi anaemia v0.133 STK4 Louise Daugherty Mode of inheritance for gene STK4 was changed from to Unknown
Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 for gene: STK4
Cytopenia - NOT Fanconi anaemia v0.133 SRC Louise Daugherty Mode of inheritance for gene SRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Thrombocytopenia 6, 616937 for gene: SRC
Cytopenia - NOT Fanconi anaemia v0.133 SLFN14 Louise Daugherty Mode of inheritance for gene SLFN14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
Cytopenia - NOT Fanconi anaemia v0.133 RNU4ATAC Louise Daugherty Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Roifman syndrome, 616651; Microcephalic osteodysplastic primordial dwarfism, type I, 210710 for gene: RNU4ATAC
Cytopenia - NOT Fanconi anaemia v0.133 PTPN11 Louise Daugherty Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome 1, 163950 for gene: PTPN11
Cytopenia - NOT Fanconi anaemia v0.133 PSMB8 Louise Daugherty Mode of inheritance for gene PSMB8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 for gene: PSMB8
Cytopenia - NOT Fanconi anaemia v0.133 MTHFD1 Louise Daugherty Mode of inheritance for gene MTHFD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
Cytopenia - NOT Fanconi anaemia v0.133 MSN Louise Daugherty Mode of inheritance for gene MSN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Immunodeficiency 50, 300988 for gene: MSN
Cytopenia - NOT Fanconi anaemia v0.133 LYST Louise Daugherty Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Chediak-Higashi syndrome, 214500 for gene: LYST
Cytopenia - NOT Fanconi anaemia v0.133 LAMTOR2 Louise Daugherty Mode of inheritance for gene LAMTOR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, 610798 for gene: LAMTOR2
Cytopenia - NOT Fanconi anaemia v0.133 KDSR Louise Daugherty Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Cytopenia - NOT Fanconi anaemia v0.133 ITGB3 Louise Daugherty Mode of inheritance for gene ITGB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glanzmann thrombasthenia, 273800 for gene: ITGB3
Cytopenia - NOT Fanconi anaemia v0.133 ITGA2B Louise Daugherty Mode of inheritance for gene ITGA2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Cytopenia - NOT Fanconi anaemia v0.133 HTRA2 Louise Daugherty Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
Cytopenia - NOT Fanconi anaemia v0.133 GP9 Louise Daugherty Mode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bernard-Soulier syndrome (includes macrothrombocytopenia); Bernard-Soulier syndrome, type C, 231200 for gene: GP9
Cytopenia - NOT Fanconi anaemia v0.133 GP1BB Louise Daugherty Mode of inheritance for gene GP1BB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bernard-Soulier syndrome, type B, 231200; Mild macrothrombocytopenia for gene: GP1BB
Cytopenia - NOT Fanconi anaemia v0.133 GNE Louise Daugherty Mode of inheritance for gene GNE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nonaka myopathy, 605820 for gene: GNE
Cytopenia - NOT Fanconi anaemia v0.133 GINS1 Louise Daugherty Mode of inheritance for gene GINS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 55, 617827 for gene: GINS1
Cytopenia - NOT Fanconi anaemia v0.133 FLNA Louise Daugherty Mode of inheritance for gene FLNA was changed from to Unknown
Cytopenia - NOT Fanconi anaemia v0.133 FLI1 Louise Daugherty Mode of inheritance for gene FLI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Bleeding disorder, platelet-type, 21, 617443 for gene: FLI1
Cytopenia - NOT Fanconi anaemia v0.133 DIAPH1 Louise Daugherty Mode of inheritance for gene DIAPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Macrothrombocytopenia and hearing loss; Deafness, autosomal dominant 1, 124900 for gene: DIAPH1
Cytopenia - NOT Fanconi anaemia v0.133 CLPB Louise Daugherty Mode of inheritance for gene CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
Cytopenia - NOT Fanconi anaemia v0.133 CDC42 Louise Daugherty Mode of inheritance for gene CDC42 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Takenouchi-Kosaki syndrome, 616737 for gene: CDC42
Cytopenia - NOT Fanconi anaemia v0.133 CD40LG Louise Daugherty Mode of inheritance for gene CD40LG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
Cytopenia - NOT Fanconi anaemia v0.133 CD40 Louise Daugherty Mode of inheritance for gene CD40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
Cytopenia - NOT Fanconi anaemia v0.133 ARPC1B Louise Daugherty Mode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Cytopenia - NOT Fanconi anaemia v0.133 AP3B1 Louise Daugherty Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hermansky-Pudlak syndrome 2, 608233 for gene: AP3B1
Cytopenia - NOT Fanconi anaemia v0.133 ADAMTS13 Louise Daugherty Mode of inheritance for gene ADAMTS13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Cytopenia - NOT Fanconi anaemia v0.133 ACTN1 Louise Daugherty Mode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Bleeding disorder, platelet-type, 15, 615193; Macrothrombocytopenia for gene: ACTN1
Cytopenia - NOT Fanconi anaemia v0.133 ACTB Louise Daugherty Mode of inheritance for gene ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Baraitser-Winter syndrome 1 with macrothrombocytopenia; Baraitser-Winter syndrome 1, 243310 for gene: ACTB
Cytopenia - NOT Fanconi anaemia v0.133 ABCG8 Louise Daugherty Mode of inheritance for gene ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sitosterolemia with macrothrombocytopenia; Sitosterolemia, 210250 for gene: ABCG8
Cytopenia - NOT Fanconi anaemia v0.133 ABCG5 Louise Daugherty Mode of inheritance for gene ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sitosterolemia with macrothrombocytopenia; Sitosterolemia, 210250 for gene: ABCG5
Cytopenia - NOT Fanconi anaemia v0.132 VWF Louise Daugherty gene: VWF was added
gene: VWF was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: VWF was set to
Cytopenia - NOT Fanconi anaemia v0.132 VPS13B Louise Daugherty gene: VPS13B was added
gene: VPS13B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: VPS13B was set to
Cytopenia - NOT Fanconi anaemia v0.132 TUBB1 Louise Daugherty Source Wessex and West Midlands GLH was added to TUBB1.
Source Yorkshire and North East GLH was added to TUBB1.
Source North West GLH was added to TUBB1.
Cytopenia - NOT Fanconi anaemia v0.132 THPO Louise Daugherty Source Wessex and West Midlands GLH was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.132 TCN2 Louise Daugherty gene: TCN2 was added
gene: TCN2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: TCN2 was set to
Cytopenia - NOT Fanconi anaemia v0.132 STK4 Louise Daugherty gene: STK4 was added
gene: STK4 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: STK4 was set to
Cytopenia - NOT Fanconi anaemia v0.132 STIM1 Louise Daugherty Source Wessex and West Midlands GLH was added to STIM1.
Source Yorkshire and North East GLH was added to STIM1.
Source North West GLH was added to STIM1.
Cytopenia - NOT Fanconi anaemia v0.132 SRC Louise Daugherty gene: SRC was added
gene: SRC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: SRC was set to
Cytopenia - NOT Fanconi anaemia v0.132 SMARCAL1 Louise Daugherty Source Wessex and West Midlands GLH was added to SMARCAL1.
Source Yorkshire and North East GLH was added to SMARCAL1.
Source North West GLH was added to SMARCAL1.
Cytopenia - NOT Fanconi anaemia v0.132 SLFN14 Louise Daugherty gene: SLFN14 was added
gene: SLFN14 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: SLFN14 was set to
Cytopenia - NOT Fanconi anaemia v0.132 SLC37A4 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC37A4.
Source Yorkshire and North East GLH was added to SLC37A4.
Source North West GLH was added to SLC37A4.
Cytopenia - NOT Fanconi anaemia v0.132 RUNX1 Louise Daugherty Source Wessex and West Midlands GLH was added to RUNX1.
Source Yorkshire and North East GLH was added to RUNX1.
Source North West GLH was added to RUNX1.
Cytopenia - NOT Fanconi anaemia v0.132 RNU4ATAC Louise Daugherty gene: RNU4ATAC was added
gene: RNU4ATAC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: RNU4ATAC was set to
Cytopenia - NOT Fanconi anaemia v0.132 RBM8A Louise Daugherty Source Wessex and West Midlands GLH was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.132 PTPN11 Louise Daugherty gene: PTPN11 was added
gene: PTPN11 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: PTPN11 was set to
Cytopenia - NOT Fanconi anaemia v0.132 PSMB8 Louise Daugherty gene: PSMB8 was added
gene: PSMB8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: PSMB8 was set to
Cytopenia - NOT Fanconi anaemia v0.132 NBEAL2 Louise Daugherty Source Wessex and West Midlands GLH was added to NBEAL2.
Source Yorkshire and North East GLH was added to NBEAL2.
Source North West GLH was added to NBEAL2.
Cytopenia - NOT Fanconi anaemia v0.132 MYH9 Louise Daugherty Source Wessex and West Midlands GLH was added to MYH9.
Source Yorkshire and North East GLH was added to MYH9.
Source North West GLH was added to MYH9.
Cytopenia - NOT Fanconi anaemia v0.132 MTHFD1 Louise Daugherty gene: MTHFD1 was added
gene: MTHFD1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: MTHFD1 was set to
Cytopenia - NOT Fanconi anaemia v0.132 MSN Louise Daugherty gene: MSN was added
gene: MSN was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: MSN was set to
Cytopenia - NOT Fanconi anaemia v0.132 MPL Louise Daugherty Source Wessex and West Midlands GLH was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.132 MPIG6B Louise Daugherty Source Yorkshire and North East GLH was added to MPIG6B.
Cytopenia - NOT Fanconi anaemia v0.132 MECOM Louise Daugherty Source Wessex and West Midlands GLH was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.132 LYST Louise Daugherty gene: LYST was added
gene: LYST was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: LYST was set to
Cytopenia - NOT Fanconi anaemia v0.132 LAMTOR2 Louise Daugherty gene: LAMTOR2 was added
gene: LAMTOR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: LAMTOR2 was set to
Cytopenia - NOT Fanconi anaemia v0.132 KDSR Louise Daugherty gene: KDSR was added
gene: KDSR was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: KDSR was set to
Cytopenia - NOT Fanconi anaemia v0.132 ITGB3 Louise Daugherty gene: ITGB3 was added
gene: ITGB3 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ITGB3 was set to
Cytopenia - NOT Fanconi anaemia v0.132 ITGA2B Louise Daugherty gene: ITGA2B was added
gene: ITGA2B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ITGA2B was set to
Cytopenia - NOT Fanconi anaemia v0.132 HTRA2 Louise Daugherty gene: HTRA2 was added
gene: HTRA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: HTRA2 was set to
Cytopenia - NOT Fanconi anaemia v0.132 HOXA11 Louise Daugherty Source Wessex and West Midlands GLH was added to HOXA11.
Source North West GLH was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.132 GP9 Louise Daugherty gene: GP9 was added
gene: GP9 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: GP9 was set to
Cytopenia - NOT Fanconi anaemia v0.132 GP1BB Louise Daugherty gene: GP1BB was added
gene: GP1BB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: GP1BB was set to
Cytopenia - NOT Fanconi anaemia v0.132 GP1BA Louise Daugherty Source Wessex and West Midlands GLH was added to GP1BA.
Source Yorkshire and North East GLH was added to GP1BA.
Source North West GLH was added to GP1BA.
Cytopenia - NOT Fanconi anaemia v0.132 GNE Louise Daugherty gene: GNE was added
gene: GNE was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: GNE was set to
Cytopenia - NOT Fanconi anaemia v0.132 GINS1 Louise Daugherty gene: GINS1 was added
gene: GINS1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: GINS1 was set to
Cytopenia - NOT Fanconi anaemia v0.132 FYB1 Louise Daugherty Source Wessex and West Midlands GLH was added to FYB1.
Cytopenia - NOT Fanconi anaemia v0.132 FLNA Louise Daugherty gene: FLNA was added
gene: FLNA was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: FLNA was set to
Cytopenia - NOT Fanconi anaemia v0.132 FLI1 Louise Daugherty gene: FLI1 was added
gene: FLI1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: FLI1 was set to
Cytopenia - NOT Fanconi anaemia v0.132 ETV6 Louise Daugherty Source Wessex and West Midlands GLH was added to ETV6.
Source North West GLH was added to ETV6.
Cytopenia - NOT Fanconi anaemia v0.132 DIAPH1 Louise Daugherty gene: DIAPH1 was added
gene: DIAPH1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: DIAPH1 was set to
Cytopenia - NOT Fanconi anaemia v0.132 CYCS Louise Daugherty Source Wessex and West Midlands GLH was added to CYCS.
Source North West GLH was added to CYCS.
Cytopenia - NOT Fanconi anaemia v0.132 CLPB Louise Daugherty gene: CLPB was added
gene: CLPB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: CLPB was set to
Cytopenia - NOT Fanconi anaemia v0.132 CDC42 Louise Daugherty gene: CDC42 was added
gene: CDC42 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: CDC42 was set to
Cytopenia - NOT Fanconi anaemia v0.132 CD40LG Louise Daugherty gene: CD40LG was added
gene: CD40LG was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: CD40LG was set to
Cytopenia - NOT Fanconi anaemia v0.132 CD40 Louise Daugherty gene: CD40 was added
gene: CD40 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: CD40 was set to
Cytopenia - NOT Fanconi anaemia v0.132 ARPC1B Louise Daugherty gene: ARPC1B was added
gene: ARPC1B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ARPC1B was set to
Cytopenia - NOT Fanconi anaemia v0.132 AP3B1 Louise Daugherty gene: AP3B1 was added
gene: AP3B1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: AP3B1 was set to
Cytopenia - NOT Fanconi anaemia v0.132 ANKRD26 Louise Daugherty Source Wessex and West Midlands GLH was added to ANKRD26.
Source North West GLH was added to ANKRD26.
Cytopenia - NOT Fanconi anaemia v0.132 ADAMTS13 Louise Daugherty gene: ADAMTS13 was added
gene: ADAMTS13 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ADAMTS13 was set to
Cytopenia - NOT Fanconi anaemia v0.132 ACTN1 Louise Daugherty gene: ACTN1 was added
gene: ACTN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ACTN1 was set to
Cytopenia - NOT Fanconi anaemia v0.132 ACTB Louise Daugherty gene: ACTB was added
gene: ACTB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ACTB was set to
Cytopenia - NOT Fanconi anaemia v0.132 ABCG8 Louise Daugherty gene: ABCG8 was added
gene: ABCG8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ABCG8 was set to
Cytopenia - NOT Fanconi anaemia v0.132 ABCG5 Louise Daugherty gene: ABCG5 was added
gene: ABCG5 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: ABCG5 was set to
Cytopenia - NOT Fanconi anaemia v0.118 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is associated with breast cancer rather than cytopenia
Cytopenia - NOT Fanconi anaemia v0.117 STIM1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as being Green on the Bleeding and Platelet disorders panel but should be Red on this panel
Cytopenia - NOT Fanconi anaemia v0.116 SMARCAL1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as syndromic
Cytopenia - NOT Fanconi anaemia v0.115 SLC37A4 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH - other discipline (IEM-GSD) so should be Red on this panel
Cytopenia - NOT Fanconi anaemia v0.114 RUNX1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel and AML panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.113 RPS27 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R92 Rare anaemia panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.112 NBEAL2 Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.112 MYH9 Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.112 NBEAL2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.
Cytopenia - NOT Fanconi anaemia v0.111 MYH9 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.
Cytopenia - NOT Fanconi anaemia v0.110 LIG4 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted it was syndromic.
Cytopenia - NOT Fanconi anaemia v0.109 GP1BA Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.108 DDX41 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted this is a susceptibility gene.
Cytopenia - NOT Fanconi anaemia v0.107 USB1 Louise Daugherty Mode of inheritance for gene: USB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.106 RPL31 Louise Daugherty Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.105 RPL27 Louise Daugherty Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.104 ADA2 Louise Daugherty Mode of inheritance for gene: ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.103 ADA2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.102 RPS7 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.101 RPS27 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.100 RPS26 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.99 RPS24 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.98 RPS19 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.97 RPS17 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.96 RPS10 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.95 RPL9 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.94 RPL5 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.93 RPL35A Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.92 RPL31 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.91 RPS29 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.90 RPL27 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.89 RPL26 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.88 RPL15 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.87 RPL11 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.86 WIPF1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.85 KLF1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.84 KIF23 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.83 RMRP Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.82 ETV6 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.81 ANKRD26 Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.80 CYCS Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.79 MPL Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.78 MECOM Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.77 ACD Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.77 PARN Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.77 PARN Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.76 ACD Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that there is enough evidence to rate this gene Green.
Cytopenia - NOT Fanconi anaemia v0.53 RPS29 Louise Daugherty Source London South GLH was added to RPS29.
Cytopenia - NOT Fanconi anaemia v0.53 RPS26 Louise Daugherty Source London South GLH was added to RPS26.
Cytopenia - NOT Fanconi anaemia v0.53 RPS24 Louise Daugherty Source London South GLH was added to RPS24.
Cytopenia - NOT Fanconi anaemia v0.53 RPS19 Louise Daugherty Source London South GLH was added to RPS19.
Cytopenia - NOT Fanconi anaemia v0.53 RPS7 Louise Daugherty Source London South GLH was added to RPS7.
Cytopenia - NOT Fanconi anaemia v0.53 RPL35A Louise Daugherty Source London South GLH was added to RPL35A.
Cytopenia - NOT Fanconi anaemia v0.53 RPL27 Louise Daugherty Source London South GLH was added to RPL27.
Cytopenia - NOT Fanconi anaemia v0.53 RPL26 Louise Daugherty Source London South GLH was added to RPL26.
Cytopenia - NOT Fanconi anaemia v0.53 RPL15 Louise Daugherty Source London South GLH was added to RPL15.
Cytopenia - NOT Fanconi anaemia v0.53 RPL11 Louise Daugherty Source London South GLH was added to RPL11.
Cytopenia - NOT Fanconi anaemia v0.53 RPS10 Louise Daugherty Source London South GLH was added to RPS10.
Cytopenia - NOT Fanconi anaemia v0.53 RPL9 Louise Daugherty Source London South GLH was added to RPL9.
Cytopenia - NOT Fanconi anaemia v0.53 RPL5 Louise Daugherty Source London South GLH was added to RPL5.
Cytopenia - NOT Fanconi anaemia v0.53 GATA1 Louise Daugherty Source London South GLH was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.53 CYCS Louise Daugherty Source London South GLH was added to CYCS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.53 RPS17 Louise Daugherty Source London South GLH was added to RPS17.
Cytopenia - NOT Fanconi anaemia v0.53 RPL31 Louise Daugherty Source London South GLH was added to RPL31.
Cytopenia - NOT Fanconi anaemia v0.53 FYB1 Louise Daugherty Source London South GLH was added to FYB1.
Cytopenia - NOT Fanconi anaemia v0.31 WIPF1 Louise Daugherty commented on gene: WIPF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WIPF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency;WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Neutropenia, severe congenital, X-linked 300299;Thrombocytopenia, X-linked 313900;Thrombocytopenia, X-linked, intermittent 313900;Wiskott-Aldrich syndrome 301000; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.30 WIPF1 Steve Keeney reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency, ?Wiskott-Aldrich syndrome 2, 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 WAS Steve Keeney reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, X-linked, 300299, Thrombocytopenia, X-linked 313900, Thrombocytopenia, X-linked, intermittent 313900, Wiskott-Aldrich syndrome, 301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia v0.29 WIPF1 Louise Daugherty Added phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; ?Wiskott-Aldrich syndrome 2, 614493; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent for gene: WIPF1
Cytopenia - NOT Fanconi anaemia v0.29 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent 313900; Thrombocytopenia, X-linked 313900; Wiskott-Aldrich syndrome, 301000; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
Cytopenia - NOT Fanconi anaemia v0.27 WRAP53 Louise Daugherty Source North West GLH was added to WRAP53.
Cytopenia - NOT Fanconi anaemia v0.27 WIPF1 Louise Daugherty Source North West GLH was added to WIPF1.
Cytopenia - NOT Fanconi anaemia v0.27 WAS Louise Daugherty Source North West GLH was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.27 VPS45 Louise Daugherty Source North West GLH was added to VPS45.
Cytopenia - NOT Fanconi anaemia v0.27 USB1 Louise Daugherty Source North West GLH was added to USB1.
Cytopenia - NOT Fanconi anaemia v0.27 TINF2 Louise Daugherty Source North West GLH was added to TINF2.
Cytopenia - NOT Fanconi anaemia v0.27 THPO Louise Daugherty Source North West GLH was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.27 TERT Louise Daugherty Source North West GLH was added to TERT.
Cytopenia - NOT Fanconi anaemia v0.27 TERC Louise Daugherty Source North West GLH was added to TERC.
Cytopenia - NOT Fanconi anaemia v0.27 TAZ Louise Daugherty Source North West GLH was added to TAZ.
Cytopenia - NOT Fanconi anaemia v0.27 SRP72 Louise Daugherty Source North West GLH was added to SRP72.
Cytopenia - NOT Fanconi anaemia v0.27 SBDS Louise Daugherty Source North West GLH was added to SBDS.
Cytopenia - NOT Fanconi anaemia v0.27 SAMD9L Louise Daugherty Source North West GLH was added to SAMD9L.
Cytopenia - NOT Fanconi anaemia v0.27 SAMD9 Louise Daugherty Source North West GLH was added to SAMD9.
Cytopenia - NOT Fanconi anaemia v0.27 RTEL1 Louise Daugherty Source North West GLH was added to RTEL1.
Cytopenia - NOT Fanconi anaemia v0.27 RMRP Louise Daugherty Source North West GLH was added to RMRP.
Cytopenia - NOT Fanconi anaemia v0.27 RBM8A Louise Daugherty Source North West GLH was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.27 PARN Louise Daugherty Source North West GLH was added to PARN.
Cytopenia - NOT Fanconi anaemia v0.27 NOP10 Louise Daugherty Source North West GLH was added to NOP10.
Cytopenia - NOT Fanconi anaemia v0.27 NHP2 Louise Daugherty Source North West GLH was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.27 MPL Louise Daugherty Source North West GLH was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.27 MPIG6B Louise Daugherty Source North West GLH was added to MPIG6B.
Cytopenia - NOT Fanconi anaemia v0.27 MECOM Louise Daugherty Source North West GLH was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.27 LAT Louise Daugherty Source North West GLH was added to LAT.
Cytopenia - NOT Fanconi anaemia v0.27 KLF1 Louise Daugherty Source North West GLH was added to KLF1.
Cytopenia - NOT Fanconi anaemia v0.27 KIF23 Louise Daugherty Source North West GLH was added to KIF23.
Cytopenia - NOT Fanconi anaemia v0.27 JAGN1 Louise Daugherty Source North West GLH was added to JAGN1.
Cytopenia - NOT Fanconi anaemia v0.27 HAX1 Louise Daugherty Source North West GLH was added to HAX1.
Cytopenia - NOT Fanconi anaemia v0.27 GFI1 Louise Daugherty Source North West GLH was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.27 GATA2 Louise Daugherty Source North West GLH was added to GATA2.
Cytopenia - NOT Fanconi anaemia v0.27 GATA1 Louise Daugherty Source North West GLH was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.27 G6PC3 Louise Daugherty Source North West GLH was added to G6PC3.
Cytopenia - NOT Fanconi anaemia v0.27 FYB1 Louise Daugherty Source North West GLH was added to FYB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.27 ERCC6L2 Louise Daugherty Source North West GLH was added to ERCC6L2.
Cytopenia - NOT Fanconi anaemia v0.27 ELANE Louise Daugherty Source North West GLH was added to ELANE.
Cytopenia - NOT Fanconi anaemia v0.27 EFL1 Louise Daugherty Source North West GLH was added to EFL1.
Cytopenia - NOT Fanconi anaemia v0.27 DNAJC21 Louise Daugherty Source North West GLH was added to DNAJC21.
Cytopenia - NOT Fanconi anaemia v0.27 DKC1 Louise Daugherty Source North West GLH was added to DKC1.
Cytopenia - NOT Fanconi anaemia v0.27 CXCR4 Louise Daugherty Source North West GLH was added to CXCR4.
Cytopenia - NOT Fanconi anaemia v0.27 CTC1 Louise Daugherty Source North West GLH was added to CTC1.
Cytopenia - NOT Fanconi anaemia v0.27 CSF3R Louise Daugherty Source North West GLH was added to CSF3R.
Cytopenia - NOT Fanconi anaemia v0.27 ACD Louise Daugherty Source North West GLH was added to ACD.
Cytopenia - NOT Fanconi anaemia v0.26 TP53 Louise Daugherty Mode of inheritance for gene: TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.24 MYSM1 Louise Daugherty Mode of inheritance for gene: MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.22 FYB1 Louise Daugherty Mode of inheritance for gene: FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.20 CYCS Louise Daugherty Mode of inheritance for gene: CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.18 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 313900 Thrombocytopenia, X-linked; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.17 WAS Mandy nesbitt reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 313900 Thrombocytopenia, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.16 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked for gene: WAS
Cytopenia - NOT Fanconi anaemia v0.15 TP53 Louise Daugherty Source NHS GMS was added to TP53.
Cytopenia - NOT Fanconi anaemia v0.15 MYSM1 Louise Daugherty Source NHS GMS was added to MYSM1.
Cytopenia - NOT Fanconi anaemia v0.15 FYB1 Louise Daugherty Source NHS GMS was added to FYB1.
Cytopenia - NOT Fanconi anaemia v0.15 CYCS Louise Daugherty Source NHS GMS was added to CYCS.
Cytopenia - NOT Fanconi anaemia v0.14 WRAP53 Louise Daugherty Source Yorkshire and North East GLH was added to WRAP53.
Cytopenia - NOT Fanconi anaemia v0.14 WAS Louise Daugherty Source Yorkshire and North East GLH was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.14 VPS45 Louise Daugherty Source Yorkshire and North East GLH was added to VPS45.
Cytopenia - NOT Fanconi anaemia v0.14 USB1 Louise Daugherty Source Yorkshire and North East GLH was added to USB1.
Cytopenia - NOT Fanconi anaemia v0.14 TP53 Louise Daugherty gene: TP53 was added
gene: TP53 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: TP53 was set to
Cytopenia - NOT Fanconi anaemia v0.14 TINF2 Louise Daugherty Source Yorkshire and North East GLH was added to TINF2.
Cytopenia - NOT Fanconi anaemia v0.14 THPO Louise Daugherty Source Yorkshire and North East GLH was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.14 TERT Louise Daugherty Source Yorkshire and North East GLH was added to TERT.
Cytopenia - NOT Fanconi anaemia v0.14 TERC Louise Daugherty Source Yorkshire and North East GLH was added to TERC.
Cytopenia - NOT Fanconi anaemia v0.14 TAZ Louise Daugherty Source Yorkshire and North East GLH was added to TAZ.
Cytopenia - NOT Fanconi anaemia v0.14 SRP72 Louise Daugherty Source Yorkshire and North East GLH was added to SRP72.
Cytopenia - NOT Fanconi anaemia v0.14 SBDS Louise Daugherty Source Yorkshire and North East GLH was added to SBDS.
Cytopenia - NOT Fanconi anaemia v0.14 SAMD9L Louise Daugherty Source Yorkshire and North East GLH was added to SAMD9L.
Cytopenia - NOT Fanconi anaemia v0.14 SAMD9 Louise Daugherty Source Yorkshire and North East GLH was added to SAMD9.
Cytopenia - NOT Fanconi anaemia v0.14 RTEL1 Louise Daugherty Source Yorkshire and North East GLH was added to RTEL1.
Cytopenia - NOT Fanconi anaemia v0.14 RBM8A Louise Daugherty Source Yorkshire and North East GLH was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.14 PARN Louise Daugherty Source Yorkshire and North East GLH was added to PARN.
Cytopenia - NOT Fanconi anaemia v0.14 NBN Louise Daugherty Source Yorkshire and North East GLH was added to NBN.
Cytopenia - NOT Fanconi anaemia v0.14 MYSM1 Louise Daugherty gene: MYSM1 was added
gene: MYSM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MYSM1 was set to
Cytopenia - NOT Fanconi anaemia v0.14 MPL Louise Daugherty Source Yorkshire and North East GLH was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.14 MECOM Louise Daugherty Source Yorkshire and North East GLH was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.14 JAGN1 Louise Daugherty Source Yorkshire and North East GLH was added to JAGN1.
Cytopenia - NOT Fanconi anaemia v0.14 HOXA11 Louise Daugherty Source Yorkshire and North East GLH was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.14 HAX1 Louise Daugherty Source Yorkshire and North East GLH was added to HAX1.
Cytopenia - NOT Fanconi anaemia v0.14 GFI1 Louise Daugherty Source Yorkshire and North East GLH was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.14 GATA2 Louise Daugherty Source Yorkshire and North East GLH was added to GATA2.
Cytopenia - NOT Fanconi anaemia v0.14 GATA1 Louise Daugherty Source Yorkshire and North East GLH was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.14 G6PC3 Louise Daugherty Source Yorkshire and North East GLH was added to G6PC3.
Cytopenia - NOT Fanconi anaemia v0.14 FYB1 Louise Daugherty gene: FYB1 was added
gene: FYB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: FYB1 was set to
Cytopenia - NOT Fanconi anaemia v0.14 ETV6 Louise Daugherty Source Yorkshire and North East GLH was added to ETV6.
Cytopenia - NOT Fanconi anaemia v0.14 ERCC6L2 Louise Daugherty Source Yorkshire and North East GLH was added to ERCC6L2.
Cytopenia - NOT Fanconi anaemia v0.14 ELANE Louise Daugherty Source Yorkshire and North East GLH was added to ELANE.
Cytopenia - NOT Fanconi anaemia v0.14 EFL1 Louise Daugherty Source Yorkshire and North East GLH was added to EFL1.
Cytopenia - NOT Fanconi anaemia v0.14 DNAJC21 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC21.
Cytopenia - NOT Fanconi anaemia v0.14 DKC1 Louise Daugherty Source Yorkshire and North East GLH was added to DKC1.
Cytopenia - NOT Fanconi anaemia v0.14 CYCS Louise Daugherty gene: CYCS was added
gene: CYCS was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CYCS was set to
Cytopenia - NOT Fanconi anaemia v0.14 CXCR4 Louise Daugherty Source Yorkshire and North East GLH was added to CXCR4.
Cytopenia - NOT Fanconi anaemia v0.14 CTC1 Louise Daugherty Source Yorkshire and North East GLH was added to CTC1.
Cytopenia - NOT Fanconi anaemia v0.14 CSF3R Louise Daugherty Source Yorkshire and North East GLH was added to CSF3R.
Cytopenia - NOT Fanconi anaemia v0.14 ANKRD26 Louise Daugherty Source Yorkshire and North East GLH was added to ANKRD26.
Cytopenia - NOT Fanconi anaemia v0.14 ACD Louise Daugherty Source Yorkshire and North East GLH was added to ACD.
Cytopenia - NOT Fanconi anaemia v0.13 EFL1 Louise Daugherty Source Expert Review Green was added to EFL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 JAGN1 Louise Daugherty Source Expert Review Green was added to JAGN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 ETV6 Louise Daugherty Source Expert Review Green was added to ETV6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 THPO Louise Daugherty Source Expert Review Green was added to THPO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 STIM1 Louise Daugherty Source Expert Review Green was added to STIM1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 DDX41 Louise Daugherty Source Expert Review Green was added to DDX41.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 MECOM Louise Daugherty Source Expert Review Green was added to MECOM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 SLC37A4 Louise Daugherty Source Expert Review Green was added to SLC37A4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 ACKR1 Louise Daugherty Source Expert Review Amber was added to ACKR1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.13 TUBB1 Louise Daugherty Source Expert Review Red was added to TUBB1.
Cytopenia - NOT Fanconi anaemia v0.13 RBM8A Louise Daugherty Source Expert Review Green was added to RBM8A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 NBEAL2 Louise Daugherty Source Expert Review Green was added to NBEAL2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 MYH9 Louise Daugherty Source Expert Review Green was added to MYH9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 GP1BA Louise Daugherty Source Expert Review Green was added to GP1BA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 ANKRD26 Louise Daugherty Source Expert Review Green was added to ANKRD26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 RUNX1 Louise Daugherty Source Expert Review Green was added to RUNX1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 SMARCAL1 Louise Daugherty Source Expert Review Green was added to SMARCAL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 PARN Louise Daugherty Source Expert Review Green was added to PARN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 MPL Louise Daugherty Source Expert Review Green was added to MPL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 LIG4 Louise Daugherty Source Expert Review Green was added to LIG4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 HOXA11 Louise Daugherty Source Expert Review Red was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.13 ACD Louise Daugherty Source Expert Review Green was added to ACD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.12 EFL1 Louise Daugherty Mode of inheritance for gene EFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1
Cytopenia - NOT Fanconi anaemia v0.12 JAGN1 Louise Daugherty Mode of inheritance for gene JAGN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1
Cytopenia - NOT Fanconi anaemia v0.12 ETV6 Louise Daugherty Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Cytopenia - NOT Fanconi anaemia v0.12 THPO Louise Daugherty Mode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 187950 Thrombocythemia 1 for gene: THPO
Cytopenia - NOT Fanconi anaemia v0.12 STIM1 Louise Daugherty Mode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Cytopenia - NOT Fanconi anaemia v0.12 DDX41 Louise Daugherty Mode of inheritance for gene DDX41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616871 Susceptibility to myeloid neoplasms for gene: DDX41
Cytopenia - NOT Fanconi anaemia v0.12 MECOM Louise Daugherty Mode of inheritance for gene MECOM was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Cytopenia - NOT Fanconi anaemia v0.12 SLC37A4 Louise Daugherty Mode of inheritance for gene SLC37A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4
Cytopenia - NOT Fanconi anaemia v0.12 ACKR1 Louise Daugherty Mode of inheritance for gene ACKR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1
Cytopenia - NOT Fanconi anaemia v0.12 TUBB1 Louise Daugherty Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1
Cytopenia - NOT Fanconi anaemia v0.12 RBM8A Louise Daugherty Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Cytopenia - NOT Fanconi anaemia v0.12 NBEAL2 Louise Daugherty Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Cytopenia - NOT Fanconi anaemia v0.12 MYH9 Louise Daugherty Mode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 155100 Macrothrombocytopenia for gene: MYH9
Cytopenia - NOT Fanconi anaemia v0.12 GP1BA Louise Daugherty Mode of inheritance for gene GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 231200 Bernard-Soulier syndrome, type A1 for gene: GP1BA
Cytopenia - NOT Fanconi anaemia v0.12 ANKRD26 Louise Daugherty Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Cytopenia - NOT Fanconi anaemia v0.12 RUNX1 Louise Daugherty Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Cytopenia - NOT Fanconi anaemia v0.12 SMARCAL1 Louise Daugherty Mode of inheritance for gene SMARCAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1
Cytopenia - NOT Fanconi anaemia v0.12 PARN Louise Daugherty Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6, for gene: PARN
Cytopenia - NOT Fanconi anaemia v0.12 MPL Louise Daugherty Mode of inheritance for gene MPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 601977 Thrombocythemia 2; 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Cytopenia - NOT Fanconi anaemia v0.12 LIG4 Louise Daugherty Mode of inheritance for gene LIG4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 606593 LIG4 syndrome for gene: LIG4
Cytopenia - NOT Fanconi anaemia v0.12 HOXA11 Louise Daugherty Mode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Cytopenia - NOT Fanconi anaemia v0.12 ACD Louise Daugherty Mode of inheritance for gene ACD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Cytopenia - NOT Fanconi anaemia v0.11 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 313900 Thrombocytopenia; PMID(s): 8757563; 8528199; 11167787
Cytopenia - NOT Fanconi anaemia v0.10 WAS Frances Smith reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 313900 Thrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.9 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia for gene: WAS
Publications for gene WAS were changed from 16804117 to 8528199; 8757563; 11167787
Cytopenia - NOT Fanconi anaemia v0.8 EFL1 Louise Daugherty Source NHS GMS was added to EFL1.
Cytopenia - NOT Fanconi anaemia v0.8 JAGN1 Louise Daugherty Source NHS GMS was added to JAGN1.
Cytopenia - NOT Fanconi anaemia v0.8 ETV6 Louise Daugherty Source NHS GMS was added to ETV6.
Cytopenia - NOT Fanconi anaemia v0.8 THPO Louise Daugherty Source NHS GMS was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.8 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Cytopenia - NOT Fanconi anaemia v0.8 DDX41 Louise Daugherty Source NHS GMS was added to DDX41.
Cytopenia - NOT Fanconi anaemia v0.8 MECOM Louise Daugherty Source NHS GMS was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.8 SLC37A4 Louise Daugherty Source NHS GMS was added to SLC37A4.
Cytopenia - NOT Fanconi anaemia v0.8 ACKR1 Louise Daugherty Source NHS GMS was added to ACKR1.
Cytopenia - NOT Fanconi anaemia v0.8 TUBB1 Louise Daugherty Source NHS GMS was added to TUBB1.
Cytopenia - NOT Fanconi anaemia v0.8 RBM8A Louise Daugherty Source NHS GMS was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.8 NBEAL2 Louise Daugherty Source NHS GMS was added to NBEAL2.
Cytopenia - NOT Fanconi anaemia v0.8 MYH9 Louise Daugherty Source NHS GMS was added to MYH9.
Cytopenia - NOT Fanconi anaemia v0.8 GP1BA Louise Daugherty Source NHS GMS was added to GP1BA.
Cytopenia - NOT Fanconi anaemia v0.8 ANKRD26 Louise Daugherty Source NHS GMS was added to ANKRD26.
Cytopenia - NOT Fanconi anaemia v0.8 RUNX1 Louise Daugherty Source NHS GMS was added to RUNX1.
Cytopenia - NOT Fanconi anaemia v0.8 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Cytopenia - NOT Fanconi anaemia v0.8 PARN Louise Daugherty Source NHS GMS was added to PARN.
Cytopenia - NOT Fanconi anaemia v0.8 MPL Louise Daugherty Source NHS GMS was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.8 LIG4 Louise Daugherty Source NHS GMS was added to LIG4.
Cytopenia - NOT Fanconi anaemia v0.8 HOXA11 Louise Daugherty Source NHS GMS was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.8 ACD Louise Daugherty Source NHS GMS was added to ACD.
Cytopenia - NOT Fanconi anaemia v0.7 USB1 Louise Daugherty Source London South GLH was added to USB1.
Cytopenia - NOT Fanconi anaemia v0.7 EFL1 Louise Daugherty gene: EFL1 was added
gene: EFL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: EFL1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 JAGN1 Louise Daugherty gene: JAGN1 was added
gene: JAGN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: JAGN1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 VPS45 Louise Daugherty Source London South GLH was added to VPS45.
Cytopenia - NOT Fanconi anaemia v0.7 CSF3R Louise Daugherty Source London South GLH was added to CSF3R.
Cytopenia - NOT Fanconi anaemia v0.7 ETV6 Louise Daugherty gene: ETV6 was added
gene: ETV6 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ETV6 was set to
Cytopenia - NOT Fanconi anaemia v0.7 MPIG6B Louise Daugherty Source London South GLH was added to MPIG6B.
Cytopenia - NOT Fanconi anaemia v0.7 THPO Louise Daugherty gene: THPO was added
gene: THPO was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: THPO was set to
Cytopenia - NOT Fanconi anaemia v0.7 SAMD9L Louise Daugherty Source London South GLH was added to SAMD9L.
Cytopenia - NOT Fanconi anaemia v0.7 STIM1 Louise Daugherty gene: STIM1 was added
gene: STIM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: STIM1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 DNAJC21 Louise Daugherty Source London South GLH was added to DNAJC21.
Cytopenia - NOT Fanconi anaemia v0.7 DDX41 Louise Daugherty gene: DDX41 was added
gene: DDX41 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: DDX41 was set to
Cytopenia - NOT Fanconi anaemia v0.7 ERCC6L2 Louise Daugherty Source London South GLH was added to ERCC6L2.
Cytopenia - NOT Fanconi anaemia v0.7 MECOM Louise Daugherty gene: MECOM was added
gene: MECOM was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: MECOM was set to
Cytopenia - NOT Fanconi anaemia v0.7 SAMD9 Louise Daugherty Source London South GLH was added to SAMD9.
Cytopenia - NOT Fanconi anaemia v0.7 TAZ Louise Daugherty Source London South GLH was added to TAZ.
Cytopenia - NOT Fanconi anaemia v0.7 SLC37A4 Louise Daugherty gene: SLC37A4 was added
gene: SLC37A4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: SLC37A4 was set to
Cytopenia - NOT Fanconi anaemia v0.7 HAX1 Louise Daugherty Source London South GLH was added to HAX1.
Cytopenia - NOT Fanconi anaemia v0.7 GFI1 Louise Daugherty Source London South GLH was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.7 G6PC3 Louise Daugherty Source London South GLH was added to G6PC3.
Cytopenia - NOT Fanconi anaemia v0.7 ELANE Louise Daugherty Source London South GLH was added to ELANE.
Cytopenia - NOT Fanconi anaemia v0.7 CXCR4 Louise Daugherty Source London South GLH was added to CXCR4.
Cytopenia - NOT Fanconi anaemia v0.7 ADA2 Louise Daugherty Source London South GLH was added to ADA2.
Cytopenia - NOT Fanconi anaemia v0.7 ACKR1 Louise Daugherty gene: ACKR1 was added
gene: ACKR1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ACKR1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 WAS Louise Daugherty Source London South GLH was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.7 TUBB1 Louise Daugherty gene: TUBB1 was added
gene: TUBB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: TUBB1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 RBM8A Louise Daugherty gene: RBM8A was added
gene: RBM8A was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: RBM8A was set to
Cytopenia - NOT Fanconi anaemia v0.7 NBEAL2 Louise Daugherty gene: NBEAL2 was added
gene: NBEAL2 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: NBEAL2 was set to
Cytopenia - NOT Fanconi anaemia v0.7 MYH9 Louise Daugherty gene: MYH9 was added
gene: MYH9 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: MYH9 was set to
Cytopenia - NOT Fanconi anaemia v0.7 GP1BA Louise Daugherty gene: GP1BA was added
gene: GP1BA was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: GP1BA was set to
Cytopenia - NOT Fanconi anaemia v0.7 ANKRD26 Louise Daugherty gene: ANKRD26 was added
gene: ANKRD26 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ANKRD26 was set to
Cytopenia - NOT Fanconi anaemia v0.7 RUNX1 Louise Daugherty gene: RUNX1 was added
gene: RUNX1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: RUNX1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 GATA2 Louise Daugherty Source London South GLH was added to GATA2.
Cytopenia - NOT Fanconi anaemia v0.7 WRAP53 Louise Daugherty Source London South GLH was added to WRAP53.
Cytopenia - NOT Fanconi anaemia v0.7 TINF2 Louise Daugherty Source London South GLH was added to TINF2.
Cytopenia - NOT Fanconi anaemia v0.7 TERT Louise Daugherty Source London South GLH was added to TERT.
Cytopenia - NOT Fanconi anaemia v0.7 TERC Louise Daugherty Source London South GLH was added to TERC.
Cytopenia - NOT Fanconi anaemia v0.7 SRP72 Louise Daugherty Source London South GLH was added to SRP72.
Cytopenia - NOT Fanconi anaemia v0.7 SMARCAL1 Louise Daugherty gene: SMARCAL1 was added
gene: SMARCAL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: SMARCAL1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 SBDS Louise Daugherty Source London South GLH was added to SBDS.
Cytopenia - NOT Fanconi anaemia v0.7 RTEL1 Louise Daugherty Source London South GLH was added to RTEL1.
Cytopenia - NOT Fanconi anaemia v0.7 RMRP Louise Daugherty Source London South GLH was added to RMRP.
Cytopenia - NOT Fanconi anaemia v0.7 PARN Louise Daugherty gene: PARN was added
gene: PARN was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: PARN was set to
Cytopenia - NOT Fanconi anaemia v0.7 NOP10 Louise Daugherty Source London South GLH was added to NOP10.
Cytopenia - NOT Fanconi anaemia v0.7 NHP2 Louise Daugherty Source London South GLH was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.7 MPL Louise Daugherty gene: MPL was added
gene: MPL was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: MPL was set to
Cytopenia - NOT Fanconi anaemia v0.7 MASTL Louise Daugherty Source London South GLH was added to MASTL.
Cytopenia - NOT Fanconi anaemia v0.7 LIG4 Louise Daugherty gene: LIG4 was added
gene: LIG4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: LIG4 was set to
Cytopenia - NOT Fanconi anaemia v0.7 HOXA11 Louise Daugherty gene: HOXA11 was added
gene: HOXA11 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: HOXA11 was set to
Cytopenia - NOT Fanconi anaemia v0.7 DKC1 Louise Daugherty Source London South GLH was added to DKC1.
Cytopenia - NOT Fanconi anaemia v0.7 CTC1 Louise Daugherty Source London South GLH was added to CTC1.
Cytopenia - NOT Fanconi anaemia v0.7 ACD Louise Daugherty gene: ACD was added
gene: ACD was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ACD was set to
Cytopenia - NOT Fanconi anaemia v0.6 WAS Louise Daugherty reviewed gene: WAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.5 WAS Carl Fratter reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.4 WRAP53 Louise Daugherty Source NHS GMS was added to WRAP53.
Cytopenia - NOT Fanconi anaemia v0.4 WIPF1 Louise Daugherty Source NHS GMS was added to WIPF1.
Cytopenia - NOT Fanconi anaemia v0.4 WAS Louise Daugherty Source NHS GMS was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.4 VPS45 Louise Daugherty Source NHS GMS was added to VPS45.
Cytopenia - NOT Fanconi anaemia v0.4 USB1 Louise Daugherty Source NHS GMS was added to USB1.
Cytopenia - NOT Fanconi anaemia v0.4 TSR2 Louise Daugherty Source NHS GMS was added to TSR2.
Cytopenia - NOT Fanconi anaemia v0.4 TINF2 Louise Daugherty Source NHS GMS was added to TINF2.
Cytopenia - NOT Fanconi anaemia v0.4 TERT Louise Daugherty Source NHS GMS was added to TERT.
Cytopenia - NOT Fanconi anaemia v0.4 TERC Louise Daugherty Source NHS GMS was added to TERC.
Cytopenia - NOT Fanconi anaemia v0.4 TAZ Louise Daugherty Source NHS GMS was added to TAZ.
Cytopenia - NOT Fanconi anaemia v0.4 SRP72 Louise Daugherty Source NHS GMS was added to SRP72.
Cytopenia - NOT Fanconi anaemia v0.4 SBDS Louise Daugherty Source NHS GMS was added to SBDS.
Cytopenia - NOT Fanconi anaemia v0.4 SAMD9L Louise Daugherty Source NHS GMS was added to SAMD9L.
Cytopenia - NOT Fanconi anaemia v0.4 SAMD9 Louise Daugherty Source NHS GMS was added to SAMD9.
Cytopenia - NOT Fanconi anaemia v0.4 RTEL1 Louise Daugherty Source NHS GMS was added to RTEL1.
Cytopenia - NOT Fanconi anaemia v0.4 RMRP Louise Daugherty Source NHS GMS was added to RMRP.
Cytopenia - NOT Fanconi anaemia v0.4 RPS7 Louise Daugherty Source NHS GMS was added to RPS7.
Cytopenia - NOT Fanconi anaemia v0.4 RPS29 Louise Daugherty Source NHS GMS was added to RPS29.
Cytopenia - NOT Fanconi anaemia v0.4 RPS28 Louise Daugherty Source NHS GMS was added to RPS28.
Cytopenia - NOT Fanconi anaemia v0.4 RPS27 Louise Daugherty Source NHS GMS was added to RPS27.
Cytopenia - NOT Fanconi anaemia v0.4 RPS26 Louise Daugherty Source NHS GMS was added to RPS26.
Cytopenia - NOT Fanconi anaemia v0.4 RPS24 Louise Daugherty Source NHS GMS was added to RPS24.
Cytopenia - NOT Fanconi anaemia v0.4 RPS19 Louise Daugherty Source NHS GMS was added to RPS19.
Cytopenia - NOT Fanconi anaemia v0.4 RPS17 Louise Daugherty Source NHS GMS was added to RPS17.
Cytopenia - NOT Fanconi anaemia v0.4 RPS10 Louise Daugherty Source NHS GMS was added to RPS10.
Cytopenia - NOT Fanconi anaemia v0.4 RPL9 Louise Daugherty Source NHS GMS was added to RPL9.
Cytopenia - NOT Fanconi anaemia v0.4 RPL5 Louise Daugherty Source NHS GMS was added to RPL5.
Cytopenia - NOT Fanconi anaemia v0.4 RPL35A Louise Daugherty Source NHS GMS was added to RPL35A.
Cytopenia - NOT Fanconi anaemia v0.4 RPL31 Louise Daugherty Source NHS GMS was added to RPL31.
Cytopenia - NOT Fanconi anaemia v0.4 RPL27 Louise Daugherty Source NHS GMS was added to RPL27.
Cytopenia - NOT Fanconi anaemia v0.4 RPL26 Louise Daugherty Source NHS GMS was added to RPL26.
Cytopenia - NOT Fanconi anaemia v0.4 RPL18 Louise Daugherty Source NHS GMS was added to RPL18.
Cytopenia - NOT Fanconi anaemia v0.4 RPL15 Louise Daugherty Source NHS GMS was added to RPL15.
Cytopenia - NOT Fanconi anaemia v0.4 RPL11 Louise Daugherty Source NHS GMS was added to RPL11.
Cytopenia - NOT Fanconi anaemia v0.4 RAC2 Louise Daugherty Source NHS GMS was added to RAC2.
Cytopenia - NOT Fanconi anaemia v0.4 NOP10 Louise Daugherty Source NHS GMS was added to NOP10.
Cytopenia - NOT Fanconi anaemia v0.4 NHP2 Louise Daugherty Source NHS GMS was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.4 NBN Louise Daugherty Source NHS GMS was added to NBN.
Cytopenia - NOT Fanconi anaemia v0.4 MPIG6B Louise Daugherty Source NHS GMS was added to MPIG6B.
Cytopenia - NOT Fanconi anaemia v0.4 MASTL Louise Daugherty Source NHS GMS was added to MASTL.
Cytopenia - NOT Fanconi anaemia v0.4 LAT Louise Daugherty Source NHS GMS was added to LAT.
Cytopenia - NOT Fanconi anaemia v0.4 KLF1 Louise Daugherty Source NHS GMS was added to KLF1.
Cytopenia - NOT Fanconi anaemia v0.4 KIF23 Louise Daugherty Source NHS GMS was added to KIF23.
Cytopenia - NOT Fanconi anaemia v0.4 IKZF1 Louise Daugherty Source NHS GMS was added to IKZF1.
Cytopenia - NOT Fanconi anaemia v0.4 HAX1 Louise Daugherty Source NHS GMS was added to HAX1.
Cytopenia - NOT Fanconi anaemia v0.4 GFI1 Louise Daugherty Source NHS GMS was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.4 GATA2 Louise Daugherty Source NHS GMS was added to GATA2.
Cytopenia - NOT Fanconi anaemia v0.4 GATA1 Louise Daugherty Source NHS GMS was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.4 G6PC3 Louise Daugherty Source NHS GMS was added to G6PC3.
Cytopenia - NOT Fanconi anaemia v0.4 FCGR3B Louise Daugherty Source NHS GMS was added to FCGR3B.
Cytopenia - NOT Fanconi anaemia v0.4 ERCC6L2 Louise Daugherty Source NHS GMS was added to ERCC6L2.
Cytopenia - NOT Fanconi anaemia v0.4 ELANE Louise Daugherty Source NHS GMS was added to ELANE.
Cytopenia - NOT Fanconi anaemia v0.4 DNAJC21 Louise Daugherty Source NHS GMS was added to DNAJC21.
Cytopenia - NOT Fanconi anaemia v0.4 DKC1 Louise Daugherty Source NHS GMS was added to DKC1.
Cytopenia - NOT Fanconi anaemia v0.4 CXCR4 Louise Daugherty Source NHS GMS was added to CXCR4.
Cytopenia - NOT Fanconi anaemia v0.4 CTC1 Louise Daugherty Source NHS GMS was added to CTC1.
Cytopenia - NOT Fanconi anaemia v0.4 CSF3R Louise Daugherty Source NHS GMS was added to CSF3R.
Cytopenia - NOT Fanconi anaemia v0.4 ADA2 Louise Daugherty Source NHS GMS was added to ADA2.
Cytopenia - NOT Fanconi anaemia v0.3 WRAP53 Louise Daugherty Source Expert Review Amber was added to WRAP53.
Mode of inheritance for gene WRAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis Congenita, Autosomal Recessive, 3; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita, autosomal recessive 3, 613988; Dyskeratosis congenita for gene: WRAP53
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 WIPF1 Louise Daugherty Source Expert Review Green was added to WIPF1.
Mode of inheritance for gene WIPF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; ?Wiskott-Aldrich syndrome 2, 614493 for gene: WIPF1
Publications for gene WIPF1 were changed from to 27742395; 11869681; 22231303; 14757742; 9405671
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 WAS Louise Daugherty Source Expert Review Green was added to WAS.
Mode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Thrombocytopenia, X-linked 313900; Thrombocytopenia, X-linked, intermittent, 313900; Wiskott-Aldrich syndrome, 301000; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
Publications for gene WAS were changed from to 16804117
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 VPS45 Louise Daugherty Source Expert Review Green was added to VPS45.
Mode of inheritance for gene VPS45 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; Neutropenia, severe congenital, 5, autosomal recessive, 615285; Severe congenital neutropenia; VPS45 deficiency for gene: VPS45
Publications for gene VPS45 were changed from to 23738510; 23599270
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 USB1 Louise Daugherty Source Expert Review Amber was added to USB1.
Added phenotypes Poikiloderma with neutropenia, 604173; Dyskeratosis congenita for gene: USB1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 TSR2 Louise Daugherty Source Expert Review Amber was added to TSR2.
Mode of inheritance for gene TSR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2
Publications for gene TSR2 were changed from to 24942156; 20301769
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 TINF2 Louise Daugherty Source Expert Review Amber was added to TINF2.
Mode of inheritance for gene TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Dominant for gene: TINF2
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 TERT Louise Daugherty Source Expert Review Green was added to TERT.
Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Pulmonary fibrosis, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989; Coronary artery disease; {Melanoma, cutaneous malignant, 9}, 615134; Aplastic Anemia; {Leukemia, acute myeloid}, 601626; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Publications for gene TERT were changed from to 15885610; 19179534; 15814878
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 TERC Louise Daugherty Source Expert Review Amber was added to TERC.
Mode of inheritance for gene TERC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Dyskeratosis congenita; Dyskeratosis Congenita, Autosomal Dominant, 1; Inherited Bone Marrow Failure Syndromes for gene: TERC
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 TAZ Louise Daugherty Source Expert Review Green was added to TAZ.
Mode of inheritance for gene TAZ was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Barth syndrome, 302060 for gene: TAZ
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 SRP72 Louise Daugherty Source Expert Review Amber was added to SRP72.
Mode of inheritance for gene SRP72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Familial Bone Marrow Failure; Bone Marrow Failure, Familial; Bone marrow failure, familial, 614675; Familial MDS (Myelodysplastic syndromes) for gene: SRP72
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 SBDS Louise Daugherty Source Expert Review Green was added to SBDS.
Mode of inheritance for gene SBDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Shwachman-Diamond syndrome 260400 for gene: SBDS
Publications for gene SBDS were changed from to 14749921; 12496757
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 SAMD9L Louise Daugherty Source Expert Review Green was added to SAMD9L.
Mode of inheritance for gene SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
Publications for gene SAMD9L were changed from to 27259050; 28202457
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 SAMD9 Louise Daugherty Source Expert Review Green was added to SAMD9.
Mode of inheritance for gene SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes MIRAGE syndrome, 617053 for gene: SAMD9
Publications for gene SAMD9 were changed from to 27182967
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RTEL1 Louise Daugherty Source Expert Review Green was added to RTEL1.
Mode of inheritance for gene RTEL1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, autosomal recessive 5 615190; Dyskeratosis congenita, autosomal dominant 4, 615190 for gene: RTEL1
Publications for gene RTEL1 were changed from to 23591994; 23453664; 23329068
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RMRP Louise Daugherty Source Expert Review Green was added to RMRP.
Mode of inheritance for gene RMRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cartilage-hair hypoplasia; Severe congenital neutropenia for gene: RMRP
Publications for gene RMRP were changed from to 11207361
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS7 Louise Daugherty Source Expert Review Green was added to RPS7.
Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes DIAMOND-BLACKFAN ANEMIA 8; Diamond_Blackfan Anemia 8; Diamond-Blackfan anemia 8, 612563; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS7
Publications for gene RPS7 were changed from to 25946618; 23718193; 27882484; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS29 Louise Daugherty Source Expert Review Green was added to RPS29.
Mode of inheritance for gene RPS29 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 13 615909 for gene: RPS29
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS28 Louise Daugherty Source Expert Review Amber was added to RPS28.
Mode of inheritance for gene RPS28 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28
Publications for gene RPS28 were changed from to 24942156; 20301769
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS27 Louise Daugherty Source Expert Review Green was added to RPS27.
Mode of inheritance for gene RPS27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27
Publications for gene RPS27 were changed from to 23718193; 25424902
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS26 Louise Daugherty Source Expert Review Green was added to RPS26.
Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS26
Publications for gene RPS26 were changed from to 24675553; 25946618; 24942156; 20116044
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS24 Louise Daugherty Source Expert Review Green was added to RPS24.
Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia 3; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond-blackfan anemia 3, 610629; Diamond Blackfan anemia for gene: RPS24
Publications for gene RPS24 were changed from to 17186470; 19689926; 19773262; 25946618; 8647458; 2210388
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS19 Louise Daugherty Source Expert Review Green was added to RPS19.
Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS19
Publications for gene RPS19 were changed from to 25946618; 24675553; 15384984; 9988267
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS17 Louise Daugherty Source Expert Review Green was added to RPS17.
Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
Publications for gene RPS17 were changed from to 22045982; 19953637; 17647292; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPS10 Louise Daugherty Source Expert Review Green was added to RPS10.
Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; DIAMOND-BLACKFAN ANEMIA 9; Diamond Blackfan anemia for gene: RPS10
Publications for gene RPS10 were changed from to 25946618; 20116044; 23718193
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL9 Louise Daugherty Source Expert Review Green was added to RPL9.
Mode of inheritance for gene RPL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia for gene: RPL9
Publications for gene RPL9 were changed from to 23718193; 20116044
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL5 Louise Daugherty Source Expert Review Green was added to RPL5.
Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5
Publications for gene RPL5 were changed from to 25946618; 19191325; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL35A Louise Daugherty Source Expert Review Green was added to RPL35A.
Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia for gene: RPL35A
Publications for gene RPL35A were changed from to 25946618; 18535205
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL31 Louise Daugherty Source Expert Review Green was added to RPL31.
Mode of inheritance for gene RPL31 was changed from to Unknown
Publications for gene RPL31 were changed from to 25424902; 25042156
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL27 Louise Daugherty Source Expert Review Green was added to RPL27.
Mode of inheritance for gene RPL27 was changed from to Unknown
Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408 for gene: RPL27
Publications for gene RPL27 were changed from to 25424902
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL26 Louise Daugherty Source Expert Review Green was added to RPL26.
Mode of inheritance for gene RPL26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Diamond-Blackfan anemia 11,614900 for gene: RPL26
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL18 Louise Daugherty Source Expert Review Amber was added to RPL18.
Mode of inheritance for gene RPL18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anaemia for gene: RPL18
Publications for gene RPL18 were changed from to 28280134
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL15 Louise Daugherty Source Expert Review Green was added to RPL15.
Mode of inheritance for gene RPL15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15
Publications for gene RPL15 were changed from to 23812780; 19438500
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RPL11 Louise Daugherty Source Expert Review Green was added to RPL11.
Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL11
Publications for gene RPL11 were changed from to 19191325; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 RAC2 Louise Daugherty Source Expert Review Amber was added to RAC2.
Added phenotypes Neutrophil immunodeficiency syndrome, 608203 for gene: RAC2
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 NOP10 Louise Daugherty Source Expert Review Amber was added to NOP10.
Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10
Publications for gene NOP10 were changed from to 17507419
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 NHP2 Louise Daugherty Source Expert Review Amber was added to NHP2.
Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, autosomal recessive 2,613987 for gene: NHP2
Publications for gene NHP2 were changed from to 18523010
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 NBN Louise Daugherty Source Expert Review Green was added to NBN.
Mode of inheritance for gene NBN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065; Nijmegen breakage syndrome, 251260 for gene: NBN
Publications for gene NBN were changed from to 15338273; 11325820
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 MPIG6B Louise Daugherty Source Expert Review Amber was added to MPIG6B.
Mode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Publications for gene MPIG6B were changed from to 27743390
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 MASTL Louise Daugherty Source Expert Review Amber was added to MASTL.
Mode of inheritance for gene MASTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes severe aplastic anemia; Thrombocytopenia for gene: MASTL
Publications for gene MASTL were changed from to 12890928; 26136524; 21211618
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 LAT Louise Daugherty Source Expert Review Amber was added to LAT.
Mode of inheritance for gene LAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
Publications for gene LAT were changed from to 27522155; 27242165
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 KLF1 Louise Daugherty Source Expert Review Green was added to KLF1.
Mode of inheritance for gene KLF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
Publications for gene KLF1 were changed from to 21055716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 KIF23 Louise Daugherty Source Expert Review Green was added to KIF23.
Mode of inheritance for gene KIF23 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23
Publications for gene KIF23 were changed from to 7711721; 7323912; 23570799
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 IKZF1 Louise Daugherty Source Expert Review Amber was added to IKZF1.
Mode of inheritance for gene IKZF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Acute lymphoblastic leukemia (ALL); Immunodeficiency, common variable, 13,616873 for gene: IKZF1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 HAX1 Louise Daugherty Source Expert Review Green was added to HAX1.
Mode of inheritance for gene HAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738; Inherited Bone Marrow Failure Syndromes - Neutropenia; Severe congenital neutropenic; Neutropenia, Severe Congenital, 3 Autosomal Dominant for gene: HAX1
Publications for gene HAX1 were changed from to 17187068; 10581030; 18024606; 18337561
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 GFI1 Louise Daugherty Source Expert Review Green was added to GFI1.
Mode of inheritance for gene GFI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, Severe Congenital, 2 Autosomal Dominant; Severe congenital neutropenic; Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1
Publications for gene GFI1 were changed from to 12530980; 12778173; 11810106; 19775295
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 GATA2 Louise Daugherty Source Expert Review Green was added to GATA2.
Mode of inheritance for gene GATA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Congenital dyserythropoietic anemia (CDA); Myelodysplastic Syndrome; Familial MDS (Myelodysplastic syndromes); Leukemia, Acute Myeloid; {Leukemia, acute myeloid, susceptibility to}, 601626; Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; {Myelodysplastic syndrome, susceptibility to}, 614286; Primary Lymphedema with Myelodysplasia; Lymphedema, Primary, With Myelodysplasia; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Immunodeficiency 21; Emberger syndrome, 614038 (includes pancytopenia); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 for gene: GATA2
Publications for gene GATA2 were changed from to 27418648; 21892162
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 GATA1 Louise Daugherty Source Expert Review Green was added to GATA1.
Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
Publications for gene GATA1 were changed from to 22706301; 24952648; 24766296; 10700180; 24453067
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 G6PC3 Louise Daugherty Source Expert Review Green was added to G6PC3.
Mode of inheritance for gene G6PC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dursun syndrome, 612541; Severe congenital neutropenic; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Neutropenia, Severe Congenital, 4 Autosomal Dominant; Severe Congenital Neutropenia for gene: G6PC3
Publications for gene G6PC3 were changed from to 19118303
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 FCGR3B Louise Daugherty Source Expert Review Amber was added to FCGR3B.
Mode of inheritance for gene FCGR3B was changed from to Other - please specify in evaluation comments
Added phenotypes Neutropenia,alloimmuneneonatal for gene: FCGR3B
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.3 ERCC6L2 Louise Daugherty Source Expert Review Green was added to ERCC6L2.
Mode of inheritance for gene ERCC6L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2
Publications for gene ERCC6L2 were changed from to 24507776; 27185855
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 ELANE Louise Daugherty Source Expert Review Green was added to ELANE.
Mode of inheritance for gene ELANE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neutropenia, cyclic 162800; Neutropenia, severe congenital 1, autosomal dominant 202700 for gene: ELANE
Publications for gene ELANE were changed from to 10581030; 11675333
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 DNAJC21 Louise Daugherty Source Expert Review Green was added to DNAJC21.
Mode of inheritance for gene DNAJC21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pancytopaenia; Bone Marrow Failure; Bone marrow failure syndrome 3, 617052 for gene: DNAJC21
Publications for gene DNAJC21 were changed from to 27346687; 29700810; 28062395
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 DKC1 Louise Daugherty Source Expert Review Green was added to DKC1.
Mode of inheritance for gene DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita for gene: DKC1
Publications for gene DKC1 were changed from to 10583221; 9590285; 9590276; 10217077
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 CXCR4 Louise Daugherty Source Expert Review Green was added to CXCR4.
Mode of inheritance for gene CXCR4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4
Publications for gene CXCR4 were changed from to 12692554; 15536153
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 CTC1 Louise Daugherty Source Expert Review Green was added to CTC1.
Mode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita for gene: CTC1
Publications for gene CTC1 were changed from to 22532422; 22899577
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 CSF3R Louise Daugherty Source Expert Review Green was added to CSF3R.
Mode of inheritance for gene CSF3R was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014; Severe congenital neutropenia for gene: CSF3R
Publications for gene CSF3R were changed from to 26324699; 24753537; 9001427
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.3 ADA2 Louise Daugherty Source Expert Review Green was added to ADA2.
Added phenotypes Diamond Blackfan anaemia for gene: ADA2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.2 WRAP53 Louise Daugherty gene: WRAP53 was added
gene: WRAP53 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: WRAP53 was set to
Cytopenia - NOT Fanconi anaemia v0.2 WIPF1 Louise Daugherty gene: WIPF1 was added
gene: WIPF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: WIPF1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 WAS Louise Daugherty gene: WAS was added
gene: WAS was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: WAS was set to
Cytopenia - NOT Fanconi anaemia v0.2 VPS45 Louise Daugherty gene: VPS45 was added
gene: VPS45 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VPS45 was set to
Cytopenia - NOT Fanconi anaemia v0.2 USB1 Louise Daugherty gene: USB1 was added
gene: USB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: USB1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 TSR2 Louise Daugherty gene: TSR2 was added
gene: TSR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TSR2 was set to
Cytopenia - NOT Fanconi anaemia v0.2 TINF2 Louise Daugherty gene: TINF2 was added
gene: TINF2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TINF2 was set to
Cytopenia - NOT Fanconi anaemia v0.2 TERT Louise Daugherty gene: TERT was added
gene: TERT was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TERT was set to
Cytopenia - NOT Fanconi anaemia v0.2 TERC Louise Daugherty gene: TERC was added
gene: TERC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TERC was set to
Cytopenia - NOT Fanconi anaemia v0.2 TAZ Louise Daugherty gene: TAZ was added
gene: TAZ was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TAZ was set to
Cytopenia - NOT Fanconi anaemia v0.2 SRP72 Louise Daugherty gene: SRP72 was added
gene: SRP72 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SRP72 was set to
Cytopenia - NOT Fanconi anaemia v0.2 SBDS Louise Daugherty gene: SBDS was added
gene: SBDS was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SBDS was set to
Cytopenia - NOT Fanconi anaemia v0.2 SAMD9L Louise Daugherty gene: SAMD9L was added
gene: SAMD9L was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SAMD9L was set to
Cytopenia - NOT Fanconi anaemia v0.2 SAMD9 Louise Daugherty gene: SAMD9 was added
gene: SAMD9 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SAMD9 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RTEL1 Louise Daugherty gene: RTEL1 was added
gene: RTEL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RTEL1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RMRP Louise Daugherty gene: RMRP was added
gene: RMRP was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RMRP was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS7 Louise Daugherty gene: RPS7 was added
gene: RPS7 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS7 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS29 Louise Daugherty gene: RPS29 was added
gene: RPS29 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS29 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS28 Louise Daugherty gene: RPS28 was added
gene: RPS28 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS28 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS27 Louise Daugherty gene: RPS27 was added
gene: RPS27 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS27 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS26 Louise Daugherty gene: RPS26 was added
gene: RPS26 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS26 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS24 Louise Daugherty gene: RPS24 was added
gene: RPS24 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS24 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS19 Louise Daugherty gene: RPS19 was added
gene: RPS19 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS19 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS17 Louise Daugherty gene: RPS17 was added
gene: RPS17 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS17 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPS10 Louise Daugherty gene: RPS10 was added
gene: RPS10 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS10 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL9 Louise Daugherty gene: RPL9 was added
gene: RPL9 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL9 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL5 Louise Daugherty gene: RPL5 was added
gene: RPL5 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL5 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL35A Louise Daugherty gene: RPL35A was added
gene: RPL35A was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL35A was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL31 Louise Daugherty gene: RPL31 was added
gene: RPL31 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL31 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL27 Louise Daugherty gene: RPL27 was added
gene: RPL27 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL27 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL26 Louise Daugherty gene: RPL26 was added
gene: RPL26 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL26 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL18 Louise Daugherty gene: RPL18 was added
gene: RPL18 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL18 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL15 Louise Daugherty gene: RPL15 was added
gene: RPL15 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL15 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RPL11 Louise Daugherty gene: RPL11 was added
gene: RPL11 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL11 was set to
Cytopenia - NOT Fanconi anaemia v0.2 RAC2 Louise Daugherty gene: RAC2 was added
gene: RAC2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RAC2 was set to
Cytopenia - NOT Fanconi anaemia v0.2 NOP10 Louise Daugherty gene: NOP10 was added
gene: NOP10 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NOP10 was set to
Cytopenia - NOT Fanconi anaemia v0.2 NHP2 Louise Daugherty gene: NHP2 was added
gene: NHP2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NHP2 was set to
Cytopenia - NOT Fanconi anaemia v0.2 NBN Louise Daugherty gene: NBN was added
gene: NBN was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NBN was set to
Cytopenia - NOT Fanconi anaemia v0.2 MPIG6B Louise Daugherty gene: MPIG6B was added
gene: MPIG6B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MPIG6B was set to
Cytopenia - NOT Fanconi anaemia v0.2 MASTL Louise Daugherty gene: MASTL was added
gene: MASTL was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MASTL was set to
Cytopenia - NOT Fanconi anaemia v0.2 LAT Louise Daugherty gene: LAT was added
gene: LAT was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LAT was set to
Cytopenia - NOT Fanconi anaemia v0.2 KLF1 Louise Daugherty gene: KLF1 was added
gene: KLF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KLF1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 KIF23 Louise Daugherty gene: KIF23 was added
gene: KIF23 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KIF23 was set to
Cytopenia - NOT Fanconi anaemia v0.2 IKZF1 Louise Daugherty gene: IKZF1 was added
gene: IKZF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: IKZF1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 HAX1 Louise Daugherty gene: HAX1 was added
gene: HAX1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HAX1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 GFI1 Louise Daugherty gene: GFI1 was added
gene: GFI1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GFI1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 GATA2 Louise Daugherty gene: GATA2 was added
gene: GATA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GATA2 was set to
Cytopenia - NOT Fanconi anaemia v0.2 GATA1 Louise Daugherty gene: GATA1 was added
gene: GATA1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GATA1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 G6PC3 Louise Daugherty gene: G6PC3 was added
gene: G6PC3 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: G6PC3 was set to
Cytopenia - NOT Fanconi anaemia v0.2 FCGR3B Louise Daugherty gene: FCGR3B was added
gene: FCGR3B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FCGR3B was set to
Cytopenia - NOT Fanconi anaemia v0.2 ERCC6L2 Louise Daugherty gene: ERCC6L2 was added
gene: ERCC6L2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ERCC6L2 was set to
Cytopenia - NOT Fanconi anaemia v0.2 ELANE Louise Daugherty gene: ELANE was added
gene: ELANE was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ELANE was set to
Cytopenia - NOT Fanconi anaemia v0.2 DNAJC21 Louise Daugherty gene: DNAJC21 was added
gene: DNAJC21 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DNAJC21 was set to
Cytopenia - NOT Fanconi anaemia v0.2 DKC1 Louise Daugherty gene: DKC1 was added
gene: DKC1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DKC1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 CXCR4 Louise Daugherty gene: CXCR4 was added
gene: CXCR4 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CXCR4 was set to
Cytopenia - NOT Fanconi anaemia v0.2 CTC1 Louise Daugherty gene: CTC1 was added
gene: CTC1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CTC1 was set to
Cytopenia - NOT Fanconi anaemia v0.2 CSF3R Louise Daugherty gene: CSF3R was added
gene: CSF3R was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CSF3R was set to
Cytopenia - NOT Fanconi anaemia v0.2 ADA2 Louise Daugherty gene: ADA2 was added
gene: ADA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ADA2 was set to