PanelApp (stage)
  1. Panels
  2. Radial Ray Abnormalities
Description
This panel was developed and is maintained by VCGS.

This panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.
Panel Activity

5 reviewers

  • Natalie Tan (Victorian Clinical Genetics Services)

  • Sue White (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

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

60 Entities

60 reviewed, 53 green

List Entity Reviews Mode of inheritance Details
60 Entitiess
Green Green List (high evidence)
BRCA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group D1, MIM# 605724
Tags
Green Green List (high evidence)
BRIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group J, MIM# 609054
Tags
  • treatable
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi aanemia, complementation group Q, MIM# 615272
  • MONDO:0014108
Tags
Green Green List (high evidence)
ESCO2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Roberts syndrome 268300
  • SC phocomelia syndrome 269000
  • Juberg-Hayward syndrome, MIM# 216100
Tags
Green Green List (high evidence)
FANCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group A, MIM# 227650
  • MONDO:0009215
Tags
Green Green List (high evidence)
FANCB
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group B, MIM# 300514
  • MONDO:0010351
Tags
Green Green List (high evidence)
FANCC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group C, MIM# 227645
  • MONDO:0009213
Tags
Green Green List (high evidence)
FANCD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group F 603467
  • MONDO:0011325
Tags
Green Green List (high evidence)
FANCG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group G, MIM# 614082
  • MONDO:0013565
Tags
Green Green List (high evidence)
FANCI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group L, MIM# 614083
  • MONDO:0013566
Tags
Green Green List (high evidence)
FGF10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lacrimoauriculodentodigital syndrome (149730)
  • Aplasia of lacrimal and salivary glands (180920)
Tags
Green Green List (high evidence)
FGFR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • LADD syndrome, MIM#149730
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • LADD syndrome, MIM#149730
Tags
Green Green List (high evidence)
FIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Yunis-Varon syndrome, MIM# 216340
Tags
Green Green List (high evidence)
FLNA
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Melnick-Needles syndrome, 309350
Tags
Green Green List (high evidence)
HDAC8
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 5, MIM# 300882
Tags
Green Green List (high evidence)
HOXA13
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hand-foot-uterus syndrome, MIM# 140000
Tags
Green Green List (high evidence)
LEF1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, LEF1-related
Tags
Green Green List (high evidence)
LMBR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Laurin-Sandrow syndrome, MIM# 135750
Tags
  • SV/CNV
Green Green List (high evidence)
MECOM
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738
  • Radioulnar synostosis without hematological aberration, no OMIM #
Tags
Green Green List (high evidence)
NIPBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 1, MIM# 122470
Tags
Green Green List (high evidence)
NPM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • radial ray defects
  • short stature
  • nail dsytrophy
  • bone marrow failure
Tags
Green Green List (high evidence)
PALB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group N, MIM# 610832
Tags
Green Green List (high evidence)
RAB34
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 20, MIM#620718
Tags
Green Green List (high evidence)
RAD21
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 4, MIM# 614701
Tags
Green Green List (high evidence)
RAD51C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group O, MIM# 613390
Tags
Green Green List (high evidence)
RBM8A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Thrombocytopenia-absent radius syndrome, MIM# 274000
Tags
  • SV/CNV
Green Green List (high evidence)
RECQL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Baller-Gerold syndrome, MIM# 218600
  • RAPADILINO syndrome, MIM# 266280
  • Rothmund-Thomson syndrome, type 2,MIM# 268400
Tags
Green 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 anaemia 7, MIM# 612562
  • MONDO:0012938
Tags
Green Green List (high evidence)
RPL15
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia 12, MIM# 615550
Tags
Green 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 anaemia 5, MIM# 612528
  • MONDO:0012925
Tags
  • SV/CNV
Green 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 anaemia 6, MIM# 612561
  • MONDO:0012937
Tags
Green 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
  • MONDO:0013216
Tags
Green 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 anaemia 4, MIM# 612527
  • MONDO:0012924
Tags
Green 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 anaemia 1, MIM# 105650
  • MONDO:0007110
Tags
Green 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 anaemia 3, MIM# 610629
  • MONDO:0012529
Tags
Green 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 anaemia 10, MIM# 613309
  • MONDO:0013217
Tags
Green 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 anaemia 8, MIM# 612563
  • MONDO:0012939
Tags
Green Green List (high evidence)
SALL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Townes-Brocks syndrome 1, MIM#107480
  • MONDO:0054581
Tags
Green Green List (high evidence)
SALL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Duane-radial ray syndrome, MIM# 607323
  • MONDO:0011812
  • IVIC syndrome, MIM# 147750
  • MONDO:0007836
Tags
Green Green List (high evidence)
SF3B4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acrofacial dysostosis 1, Nager type, MIM# 154400
Tags
Green Green List (high evidence)
SHOX
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leri-Weill dyschondrosteosis, MIM# 127300
  • Langer mesomelic dysplasia, MIM#249700
Tags
Green Green List (high evidence)
SLX4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group P, MIM# 613951
  • MONDO:0013499
Tags
Green Green List (high evidence)
SMC1A
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590
Tags
Green Green List (high evidence)
SMC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 3, MIM# 610759
Tags
Green Green List (high evidence)
TBX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ulnar-mammary syndrome, MIM# 181450
  • MONDO:0008411
Tags
Green Green List (high evidence)
TBX5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Holt-Oram syndrome, MIM# 142900
Tags
Green Green List (high evidence)
UBE2T
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
  • SV/CNV
Green Green List (high evidence)
WNT7A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fuhrmann syndrome, MIM# 228930
  • Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Tags
Green Green List (high evidence)
ZIC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • VACTERL association, X-linked 314390
Tags
Amber Amber List (moderate evidence)
RAD51
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Fanconi anaemia, complementation group R, MIM# 617244
Tags
Amber 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 Red List (low evidence)
DACT1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Townes-Brocks syndrome 2 (OMIM #617466)
Tags
Red Red List (low evidence)
FANCM
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted
Red Red List (low evidence)
GATA1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
RPL26
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 11, MIM# 614900
Tags
Red Red List (low evidence)
RPS28
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Tags

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