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Diamond Blackfan anaemia v1.7 Zornitza Stark HPO terms changed from to Anemia, HP:0001903; Abnormality of thumb morphology, HP:0001172
List of related panels changed from to Anemia; HP:0001903; Abnormality of thumb morphology; HP:0001172
Diamond Blackfan anaemia v1.6 RPS15 Zornitza Stark Marked gene: RPS15 as ready
Diamond Blackfan anaemia v1.6 RPS15 Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v1.6 RPS15 Zornitza Stark gene: RPS15 was added
gene: RPS15 was added to Diamond Blackfan anaemia. Sources: Expert Review
Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15 were set to 19061985
Phenotypes for gene: RPS15 were set to Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
Review for gene: RPS15 was set to RED
Added comment: Single individual reported in 2008, no reports since.
Sources: Expert Review
Diamond Blackfan anaemia v1.5 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.3 GATA1 Daniel Flanagan gene: GATA1 was added
gene: GATA1 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA1 were set to PMID: 36029112
Phenotypes for gene: GATA1 were set to Diamond-Blackfan anemia (MONDO:0015253)
Review for gene: GATA1 was set to GREEN
Added comment: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype.
Sources: Expert list
Diamond Blackfan anaemia v1.3 HEATR3 Zornitza Stark Marked gene: HEATR3 as ready
Diamond Blackfan anaemia v1.3 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.3 HEATR3 Zornitza Stark Classified gene: HEATR3 as Green List (high evidence)
Diamond Blackfan anaemia v1.3 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.2 HEATR3 Chern Lim gene: HEATR3 was added
gene: HEATR3 was added to Diamond Blackfan anaemia. Sources: Literature
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to PMID: 35213692
Phenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related
Review for gene: HEATR3 was set to GREEN
gene: HEATR3 was marked as current diagnostic
Added comment: PMID: 35213692:
- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.
- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.
Sources: Literature
Diamond Blackfan anaemia v1.2 RPL8 Bryony Thompson Marked gene: RPL8 as ready
Diamond Blackfan anaemia v1.2 RPL8 Bryony Thompson Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v1.2 RPL8 Bryony Thompson Classified gene: RPL8 as Amber List (moderate evidence)
Diamond Blackfan anaemia v1.2 RPL8 Bryony Thompson Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v1.1 RPL8 Bryony Thompson gene: RPL8 was added
gene: RPL8 was added to Diamond Blackfan anaemia. Sources: Literature
Mode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL8 were set to 25424902; 34961992
Phenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253
Review for gene: RPL8 was set to AMBER
Added comment: 2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production.
Sources: Literature
Diamond Blackfan anaemia v1.0 Zornitza Stark promoted panel to version 1.0
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Classified gene: RPL18 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.80 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL18 were set to 28280134; 32075953
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310
Review for gene: RPL18 was set to AMBER
Added comment: One family and a zebrafish model.
Sources: Expert list
Diamond Blackfan anaemia v0.79 RPS15A Zornitza Stark Marked gene: RPS15A as ready
Diamond Blackfan anaemia v0.79 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.79 RPS15A Zornitza Stark gene: RPS15A was added
gene: RPS15A was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15A were set to 27909223
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313
Review for gene: RPS15A was set to RED
Added comment: Single family reported.
Sources: Expert list
Diamond Blackfan anaemia v0.78 RPL35 Zornitza Stark Marked gene: RPL35 as ready
Diamond Blackfan anaemia v0.78 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.78 RPL35 Zornitza Stark gene: RPL35 was added
gene: RPL35 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35 were set to 28280134
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312
Review for gene: RPL35 was set to RED
Added comment: Single family reported.
Sources: Expert list
Diamond Blackfan anaemia v0.77 Zornitza Stark removed gene:GATA1 from the panel
Diamond Blackfan anaemia v0.76 Zornitza Stark removed gene:ADA2 from the panel
Diamond Blackfan anaemia v0.75 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Diamond Blackfan anaemia v0.75 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.75 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
Diamond Blackfan anaemia v0.74 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Diamond Blackfan anaemia v0.73 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.72 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.72 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Diamond Blackfan anaemia v0.72 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.72 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217
Diamond Blackfan anaemia v0.71 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Diamond Blackfan anaemia v0.70 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.69 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.69 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Diamond Blackfan anaemia v0.69 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.69 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529
Diamond Blackfan anaemia v0.68 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Diamond Blackfan anaemia v0.67 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.66 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186470, 23812780, 25946618; Phenotypes: Diamond-blackfan anemia 3, MIM# 610629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.66 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from Diamond-Blackfan anemia 1, MIM# 105650 to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark edited their review of gene: RPS19: Changed phenotypes: Diamond-Blackfan anemia 1, MIM# 105650, MONDO:0007110
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650
Diamond Blackfan anaemia v0.64 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Diamond Blackfan anaemia v0.63 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.62 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.62 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Diamond Blackfan anaemia v0.62 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.62 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anemia 9, MIM# 613308
Diamond Blackfan anaemia v0.61 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Diamond Blackfan anaemia v0.60 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.59 RPS10 Zornitza Stark reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark edited their review of gene: RPL5: Changed phenotypes: Diamond-Blackfan anemia 6, MIM# 612561, MONDO:0012937
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Diamond Blackfan anaemia v0.55 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937
Diamond Blackfan anaemia v0.54 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.53 RPL5 Zornitza Stark reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 6, MIM# 612561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark changed review comment from: Over 50 unrelated individuals reported.; to: Over 50 unrelated individuals reported. Large deletions common.
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528
Diamond Blackfan anaemia v0.52 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Diamond Blackfan anaemia v0.51 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.50 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.50 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Diamond Blackfan anaemia v0.50 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.50 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.49 RPL27 Zornitza Stark Publications for gene: RPL27 were set to
Diamond Blackfan anaemia v0.48 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.46 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.46 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Diamond Blackfan anaemia v0.46 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.46 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Diamond Blackfan anaemia v0.45 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Diamond Blackfan anaemia v0.44 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.43 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.43 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Diamond Blackfan anaemia v0.43 GATA1 Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.43 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367; Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835
Diamond Blackfan anaemia v0.42 GATA1 Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.41 GATA1 Zornitza Stark Classified gene: GATA1 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.41 GATA1 Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.40 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.40 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Diamond Blackfan anaemia v0.40 ADA2 Zornitza Stark Gene: ada2 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.40 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Diamond Blackfan anaemia v0.39 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Diamond Blackfan anaemia v0.38 ADA2 Zornitza Stark Classified gene: ADA2 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.38 ADA2 Zornitza Stark Gene: ada2 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.37 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Diamond Blackfan anaemia v0.37 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Diamond Blackfan anaemia v0.36 RPL9 Zornitza Stark Publications for gene: RPL9 were set to 29114930; 20116044
Diamond Blackfan anaemia v0.35 RPL9 Zornitza Stark Classified gene: RPL9 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.35 RPL9 Zornitza Stark Gene: rpl9 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.34 RPL9 Zornitza Stark edited their review of gene: RPL9: Added comment: New publication, second individual reported with same c.-2+1G>C variant in the 5′UTR of RPL9, deleterious effect demonstrated, functional data, upgrade to Amber:

PMID: 31799629 (2020) - Female infant diagnosed with Diamond-Blackfan anaemia carrying a de novo variant (c.-2+1G>C) in the 5′UTR of RPL9, predicted to affect the donor splice site of exon 1. Phenotypic overlap can be seen with the previously reported case with the same variant, including colitis, thumb anomaly, and microcephaly. Functional studies showed the variant impairs processing of pre-rRNA during ribosome biogenesis, stabilises TP53 and impairs the proliferation and differentiation of erythroid cells. Zebrafish models of RPL9 LoF recapitulate the anaemia phenotype.; Changed rating: AMBER; Changed publications: 29114930, 20116044, 31799629
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Marked gene: RPS20 as ready
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Gene: rps20 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Classified gene: RPS20 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.34 RPS20 Bryony Thompson Gene: rps20 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.33 RPS20 Bryony Thompson gene: RPS20 was added
gene: RPS20 was added to Diamond Blackfan 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
Mode of pathogenicity for gene: RPS20 was set to Other
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
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Diamond Blackfan anaemia v0.31 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Diamond Blackfan anaemia v0.30 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.29 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Diamond Blackfan anaemia v0.29 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.28 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Diamond Blackfan anaemia v0.27 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Diamond Blackfan anaemia v0.26 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.25 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Diamond Blackfan anaemia v0.25 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.24 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Diamond Blackfan anaemia v0.23 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Diamond Blackfan anaemia v0.22 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.21 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Phenotypes for gene: RPL31 were changed from to Diamond Blackfan anaemia
Diamond Blackfan anaemia v0.19 RPL31 Zornitza Stark Publications for gene: RPL31 were set to
Diamond Blackfan anaemia v0.18 RPL31 Zornitza Stark Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.17 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.17 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.16 RPL31 Zornitza Stark reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Phenotypes for gene: RPL15 were changed from Diamond-Blackfan anemia 12, MIM# 615550 to Diamond-Blackfan anemia 12, MIM# 615550
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Phenotypes for gene: RPL15 were changed from to Diamond-Blackfan anemia 12, MIM# 615550
Diamond Blackfan anaemia v0.15 RPL15 Zornitza Stark Publications for gene: RPL15 were set to
Diamond Blackfan anaemia v0.14 RPL15 Zornitza Stark Mode of inheritance for gene: RPL15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.13 RPL15 Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812780, 29599205; Phenotypes: Diamond-Blackfan anemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.13 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Diamond Blackfan anaemia v0.13 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.13 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Diamond Blackfan anaemia v0.12 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Diamond Blackfan anaemia v0.11 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.10 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.10 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.9 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.9 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Diamond Blackfan anaemia v0.9 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.9 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909
Diamond Blackfan anaemia v0.8 RPS29 Zornitza Stark Publications for gene: RPS29 were set to
Diamond Blackfan anaemia v0.7 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.6 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.6 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.5 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.5 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Diamond Blackfan anaemia v0.5 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.5 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900
Diamond Blackfan anaemia v0.4 RPL26 Zornitza Stark Publications for gene: RPL26 were set to
Diamond Blackfan anaemia v0.3 RPL26 Zornitza Stark Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.2 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Diamond Blackfan anaemia v0.2 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.1 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.1 Zornitza Stark Panel name changed from Diamond Blackfan anaemia_VCGS to Diamond Blackfan anaemia
Panel types changed to Victorian Clinical Genetics Services
Diamond Blackfan anaemia v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSR2 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS7 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS29 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS28 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS27 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS26 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS24 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS19 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS17 was set to Unknown
Diamond Blackfan anaemia v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS10 was set to Unknown
Diamond Blackfan anaemia v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL5 was set to Unknown
Diamond Blackfan anaemia v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL35A was set to Unknown
Diamond Blackfan anaemia v0.0 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL31 was set to Unknown
Diamond Blackfan anaemia v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL27 was set to Unknown
Diamond Blackfan anaemia v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL26 was set to Unknown
Diamond Blackfan anaemia v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL15 was set to Unknown
Diamond Blackfan anaemia v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL11 was set to Unknown
Diamond Blackfan anaemia v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA1 was set to Unknown
Diamond Blackfan anaemia v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADA2 was set to Unknown
Diamond Blackfan anaemia v0.0 Zornitza Stark Added panel Diamond Blackfan anaemia_VCGS