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  2. Diamond Blackfan anaemia

Diamond Blackfan anaemia (Version 1.8)

Level 2: Haematological disorders

Relevant disorders: Anemia, HP:0001903; Abnormality of thumb morphology, HP:0001172
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:
-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow
-growth retardation
-craniofacial, upper limb, heart, and urinary system congenital malformations.

Increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.

DBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.

Please also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.
Panel Activity

5 reviewers

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

26 Entities

26 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
26 Entitiess
Green List (high evidence)
GATA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia (MONDO:0015253)
Tags
Green List (high evidence)
HEATR3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anaemia 21, MIM# 620072
Tags
Green List (high evidence)
RPL11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 7, MIM# 612562
  • MONDO:0012938
Tags
Green List (high evidence)
RPL15
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 12, MIM# 615550
Tags
Green List (high evidence)
RPL26
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 11, MIM# 614900
Tags
Green List (high evidence)
RPL35A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 5, MIM# 612528
Tags
  • SV/CNV
Green List (high evidence)
RPL5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 6, MIM# 612561
  • MONDO:0012937
Tags
Green List (high evidence)
RPS10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 9, MIM# 613308
Tags
Green List (high evidence)
RPS17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 4, MIM# 612527
Tags
Green List (high evidence)
RPS19
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 1, MIM# 105650
  • MONDO:0007110
Tags
Green List (high evidence)
RPS24
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-blackfan anemia 3, MIM# 610629
  • MONDO:0012529
Tags
Green List (high evidence)
RPS26
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 10, MIM# 613309
  • MONDO:0013217
Tags
Green List (high evidence)
RPS7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 8, MIM# 612563
  • MONDO:0012939
Tags
Amber List (moderate evidence)
RPL18
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Diamond-Blackfan anemia 18, MIM# 618310
Tags
Amber List (moderate evidence)
RPL31
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anaemia
Tags
Amber List (moderate evidence)
RPL8
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond-Blackfan anemia MONDO:0015253
Tags
Amber List (moderate evidence)
RPL9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Diamond Blackfan anaemia
Tags
Amber List (moderate evidence)
RPS20
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond Blackfan anaemia
Tags
Amber List (moderate evidence)
RPS28
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Tags
Amber List (moderate evidence)
RPS29
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 13, MIM# 615909
Tags
Red List (low evidence)
RPL27
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 16, MIM# 617408
Tags
Red List (low evidence)
RPL35
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anemia 19, MIM# 618312
Tags
Red List (low evidence)
RPS15
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
Tags
Red List (low evidence)
RPS15A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anemia 20, MIM# 618313
Tags
Red List (low evidence)
RPS27
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409
Tags
Red List (low evidence)
TSR2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Tags

Major version comments

  • 2021-03-06 03:02 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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