PanelApp (test)
  1. Panels
  2. IBMDx study
Description
The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.

This panel is appropriate to be used for the following phenotypes of IBMD :
-	Fanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) 
-	Diamond-Blackfan anaemia
-	Dyskeratosis congenita / telomere biology disorders
-	Shwachman-Diamond syndrome
-	Severe congenital neutropenia
-	Thrombocytopenia-absent radius syndrome
-	Congenital amegakaryocytic thrombocytopenia
-	Adenosine deaminase deficiency
-	GATA2 deficiency syndrome
-	SAMD9 / SAMD9L related disorders 
-	Congenital dyserythropoietic anaemia
-	Congenital sideroblastic anaemia
-	Bernard-Soulier syndrome

This panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”

Some heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.
Panel Activity

6 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • vahid pazhakh (Peter MacCallum Cancer Centre)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

  • Santosh Varughese (University of Melbourne)

100 Entities

100 reviewed, 97 green

List Entity Reviews Mode of inheritance Details
100 Entitiess
Green Green List (high evidence)
ABCB7
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Anemia, sideroblastic, with ataxia, MIM# 301310
Tags
Green Green List (high evidence)
ACTN1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • ACTN1 related thrombocytopenia
Tags
Green Green List (high evidence)
ADA2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Tags
Green Green List (high evidence)
ADH5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Literature
Phenotypes
  • AMED syndrome, digenic, MIM# 619151
  • short stature
  • Aplastic anaemia
  • myelodysplasia
Tags
Green Green List (high evidence)
AK2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0009973
  • Reticular dysgenesis, MIM# 267500
Tags
Green Green List (high evidence)
ALAS2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Anemia, sideroblastic, 1, MIM# 300751
Tags
Green Green List (high evidence)
ANKRD26
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocytopaenia 2, MIM# 188000
Tags
Green Green List (high evidence)
C15orf41
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Tags
Green Green List (high evidence)
CDAN1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ia, 224120
Tags
Green Green List (high evidence)
CDC42
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Takenouchi-Kosaki syndrome with thrombocytopenia
Tags
Green Green List (high evidence)
CSF3R
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
Tags
Green Green List (high evidence)
CTC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Tags
Green Green List (high evidence)
CXCR4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • WHIM syndrome, MIM# 193670
Tags
Green Green List (high evidence)
CYCS
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Autosomal dominant thrombocytopenia 4
Tags
Green Green List (high evidence)
DDX41
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Tags
Green Green List (high evidence)
DIAPH1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Macrothrombocytopenia and sensorineural hearing loss
Tags
Green Green List (high evidence)
DKC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Hoyeraal-Hreidarsson Syndrome
  • Dyskeratosis congenita, X-linked 305000
Tags
Green Green List (high evidence)
DNAJC21
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Bone marrow failure syndrome 3, MIM# 617052
Tags
Green Green List (high evidence)
EFL1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome 2, MIM# 617941
Tags
Green Green List (high evidence)
ELANE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group Q, MIM# 615272
Tags
Green Green List (high evidence)
ERCC6L2
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Bone marrow failure syndrome 2, MIM# 615715
Tags
Green Green List (high evidence)
ETV6
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Thrombocytopenia 5, MIM# 616216
Tags
Green Green List (high evidence)
FANCA
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0009215
  • Fanconi anaemia, complementation group A, MIM# 227650
Tags
Green Green List (high evidence)
FANCB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group B, MIM# 300514
Tags
Green Green List (high evidence)
FANCC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0009213
  • Fanconi anemia, complementation group C, MIM# 227645
Tags
Green Green List (high evidence)
FANCD2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group D2, MIM# 227646
  • MONDO:0009214
Tags
Green Green List (high evidence)
FANCE
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group E, MIM# 600901
  • MONDO:0010953
Tags
Green Green List (high evidence)
FANCF
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group F 603467
  • MONDO:0011325
Tags
Green Green List (high evidence)
FANCG
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0013565
  • Fanconi anaemia, complementation group G, MIM# 614082
Tags
Green Green List (high evidence)
FANCI
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group I, MIM# 609053
  • MONDO:0012186
Tags
Green Green List (high evidence)
FANCL
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group L, MIM# 614083
  • MONDO:0013566
Tags
Green Green List (high evidence)
FLI1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Paris-Trousseau thrombocytopenia and Jacobson syndrome
Tags
Green Green List (high evidence)
G6PC3
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Dursun syndrome, MIM# 612541
  • MONDO:0012930
  • Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Tags
Green Green List (high evidence)
GATA1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Tags
Green Green List (high evidence)
GATA2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
  • Immunodeficiency 21, MIM# 614172
  • Emberger syndrome, MIM# 614038
  • Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Tags
Green Green List (high evidence)
GFI1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
Tags
Green Green List (high evidence)
GFI1B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Literature
Phenotypes
  • Bleeding disorder, platelet-type, 17
Tags
Green Green List (high evidence)
GLRX5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Tags
Green Green List (high evidence)
GP1BA
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome (BSS)
Tags
Green Green List (high evidence)
GP1BB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome (BSS)
Tags
Green Green List (high evidence)
GP9
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome (BSS)
Tags
Green Green List (high evidence)
HAX1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Kostmann syndrome MONDO:0012548
  • Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
Tags
Green Green List (high evidence)
HOXA11
1 review
 Unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Tags
Green Green List (high evidence)
ITGA2B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
Tags
Green Green List (high evidence)
ITGB3
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
Tags
Green Green List (high evidence)
JAGN1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
Tags
Green Green List (high evidence)
KLF1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0013355
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
Tags
Green Green List (high evidence)
LIG4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • LIG4 syndrome, MIM# 606593
  • DNA ligase IV deficiency, MONDO:0011686
Tags
Green Green List (high evidence)
LYST
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Chediak-Higashi syndrome (CHS)
Tags
Green Green List (high evidence)
MECOM
3 reviews
3 green 		Unknown
Sources
  • Expert Review
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
  • Bone marrow failure without radioulnar synostosis (RUS)
Tags
Green Green List (high evidence)
MPL
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocythemia 2, MIM#601977, AD, SMu
  • Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
  • Myelofibrosis with myeloid metaplasia, somatic, MIM#254450
Tags
Green Green List (high evidence)
MYH9
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Tags
Green Green List (high evidence)
MYSM1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Bone marrow failure syndrome 4, MIM#618116
Tags
Green Green List (high evidence)
NBEAL2
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Gray platelet syndrome, MIM# 139090
Tags
Green Green List (high evidence)
NHP2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Tags
Green Green List (high evidence)
PALB2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group N, MIM# 610832
Tags
Green Green List (high evidence)
PARN
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
  • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Tags
Green Green List (high evidence)
PUS1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Tags
Green Green List (high evidence)
RAD51C
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group O, MIM# 613390
Tags
Green Green List (high evidence)
RBM8A
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocytopenia-absent radius syndrome, MIM# 274000
Tags
Green Green List (high evidence)
RPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • IBMDx Study
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
  • Bone marrow failure
  • T- and B-cell lymphopaenia
  • pulmonary fibrosis
  • skin manifestations
  • short telomeres
Tags
Green Green List (high evidence)
RPL11
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 7, MIM# 612562
  • MONDO:0012938
Tags
Green Green List (high evidence)
RPL15
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Diamond-Blackfan anemia 12, MIM# 615550
Tags
Green Green List (high evidence)
RPL31
1 review
 Unknown
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Diamond Blackfan anaemia
Tags
Green Green List (high evidence)
RPL35A
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0012925
  • Diamond-Blackfan anemia 5, MIM# 612528
Tags
Green Green List (high evidence)
RPL5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0012937
  • Diamond-Blackfan anaemia 6, MIM# 612561
Tags
Green Green List (high evidence)
RPL9
1 review
 Unknown
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Diamond Blackfan anaemia
Tags
Green Green List (high evidence)
RPS10
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 9, MIM# 613308
Tags
Green Green List (high evidence)
RPS17
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Diamond-Blackfan anaemia 4, MIM# 612527
  • MONDO:0012924
Tags
Green Green List (high evidence)
RPS19
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 1, MIM# 105650
  • MONDO:0007110
Tags
Green Green List (high evidence)
RPS20
2 reviews
 Unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • IBMDx Study
  • Literature
Phenotypes
  • Diamond Blackfan anaemia
Tags
Green Green List (high evidence)
RPS24
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0012529
  • Diamond-blackfan anemia 3, MIM# 610629
Tags
Green Green List (high evidence)
RPS26
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0013217
  • Diamond-Blackfan anemia 10, MIM# 613309
Tags
Green Green List (high evidence)
RPS27
2 reviews
1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409
Tags
Green Green List (high evidence)
RPS29
1 review
 Unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 13, MIM# 615909
Tags
Green Green List (high evidence)
RPS7
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 8, MIM# 612563
  • MONDO:0012939
Tags
Green Green List (high evidence)
RTEL1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
  • Dyskeratosis congenita, MIM# 615190
Tags
Green Green List (high evidence)
RUNX1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • MIRAGE syndrome, MIM#617053
Tags
Green Green List (high evidence)
SAMD9L
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Ataxia-pancytopenia syndrome, MIM# 159550
Tags
Green Green List (high evidence)
SBDS
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400
Tags
Green Green List (high evidence)
SEC23B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyserythropoietic anemia, congenital, type II , MIM#224100
Tags
Green Green List (high evidence)
SLC19A2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Tags
Green Green List (high evidence)
SLC25A38
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Tags
Green Green List (high evidence)
SLX4
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group P, MIM# 613951
Tags
Green Green List (high evidence)
SRP54
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic neutropenia with Shwachman-Diamond-like features
Tags
Green Green List (high evidence)
TERC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Tags
Green Green List (high evidence)
TERT
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, MIM# 613989
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Tags
Green Green List (high evidence)
THPO
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Thrombocytopenia progressing to trilineage bone marrow failure
Tags
Green Green List (high evidence)
TINF2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Revesz syndrome, MIM# 268130
  • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
Tags
Green Green List (high evidence)
UBE2T
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
Green Green List (high evidence)
VPS45
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Tags
Green Green List (high evidence)
WAS
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocytopenia, X-linked, MIM# 313900
  • Wiskott-Aldrich syndrome, MIM# 301000
Tags
Green Green List (high evidence)
WIPF1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493
Tags
Green Green List (high evidence)
WRAP53
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Tags
Green Green List (high evidence)
XRCC2
1 review
 Unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group U, MIM# 617247
Tags
Amber Amber List (moderate evidence)
FANCM
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • FA-like syndromes, chemotherapy toxicity
Tags
Amber Amber List (moderate evidence)
RPL26
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • IBMDx Study
Phenotypes
  • Diamond-Blackfan anemia 11, MIM# 614900
Tags
Amber Amber List (moderate evidence)
RPL27
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 16, MIM# 617408
Tags

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