PanelApp (stage)
  1. Panels
  2. Chromosome Breakage Disorders
Description
This panel was created and is maintained by VCGS.

Chromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.

Typical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.
Panel Activity

3 reviewers

  • Danielle Ariti (University of Melbourne)

  • Santosh Varughese (University of Melbourne)

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

60 Entities

60 reviewed, 51 green

List Entity Reviews Mode of inheritance Details
60 Entitiess
Green Green List (high evidence)
ATM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia, MIM# 208900
Tags
Green Green List (high evidence)
BLM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom syndrome, MIM# 210900
Tags
Green Green List (high evidence)
BRCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group S, MIM# 617883
Tags
Green Green List (high evidence)
BRCA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, 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 anemia, complementation group J, MIM# 609054
Tags
  • treatable
Green Green List (high evidence)
CDCA7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
  • MONDO:0014828
Tags
Green Green List (high evidence)
DDB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Tags
Green Green List (high evidence)
DDX11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warsaw breakage syndrome, MIM# 613398
  • MONDO:0013252
Tags
Green Green List (high evidence)
DNMT3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Tags
  • treatable
Green Green List (high evidence)
ERCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4, MIM# 610758
  • MONDO:0012554
Tags
Green Green List (high evidence)
ERCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
  • MONDO:0012553
  • Trichothiodystrophy 1, photosensitive, MIM# 601675
  • MONDO:0011125
  • Xeroderma pigmentosum, group D, MIM# 278730
  • MONDO:0010212
Tags
Green Green List (high evidence)
ERCC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 2, photosensitive, MIM# 616390
  • Xeroderma pigmentosum, group B 61, MIM#0651
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group Q, MIM# 615272
  • MONDO:0014108
  • Xeroderma pigmentosum, group F, MIM# 278760
  • MONDO:0010215
  • XFE progeroid syndrome, MIM# 610965
  • MONDO:0012590
Tags
Green Green List (high evidence)
ERCC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
  • MONDO:0014696
  • Xeroderma pigmentosum, group G, MIM# 278780
  • MONDO:0010216
Tags
Green Green List (high evidence)
ERCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 1, MIM# 214150
  • MONDO:0008955
  • Cockayne syndrome, type B, MIM# 133540
  • MONDO:0019570
  • De Sanctis-Cacchione syndrome, MIM# 278800
  • MONDO:0010217
  • UV-sensitive syndrome 1, MIM# 600630
  • MONDO:0010909
Tags
Green Green List (high evidence)
ERCC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cockayne syndrome, type A, MIM# 216400
  • MONDO:0019569
  • UV-sensitive syndrome 2, MIM# 614621
  • MONDO:0013829
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 anemia, 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)
GTF2H5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 3, photosensitive, MIM# 616395
  • MONDO:0014619
Tags
Green Green List (high evidence)
HELLS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
  • MONDO:0014829
Tags
Green Green List (high evidence)
LIG4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LIG4 syndrome, MIM# 606593
Tags
  • treatable
Green Green List (high evidence)
MPLKIP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, MIM# 234050
  • MONDO:0021013
Tags
Green Green List (high evidence)
MRE11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia-like disorder 1, MIM# 604391
  • MONDO:0024557
Tags
Green Green List (high evidence)
NBN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nijmegen breakage syndrome, MIM# 251260
  • MONDO:0009623
Tags
Green Green List (high evidence)
NHEJ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291
  • MONDO:0012650
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)
PNKP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ataxia-oculomotor apraxia 4, MIM# 616267
  • Microcephaly, seizures, and developmental delay, MIM# 613402
Tags
Green Green List (high evidence)
POLH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, variant type, MIM# 278750
  • MONDO:0010214
Tags
Green Green List (high evidence)
RAD50
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nijmegen breakage syndrome-like disorder, MIM# 613078
  • MONDO:0013118
Tags
Green Green List (high evidence)
RAD51
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group R, MIM# 617244
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)
RECQL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rothmund-Thomson syndrome, type 2, MIM# 268400
  • RAPADILINO syndrome, MIM# 266280
  • Baller-Gerold syndrome, MIM# 218600
  • RECON progeroid syndrome, MIM# 620370
Tags
Green Green List (high evidence)
RNF113A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Trichothiodystrophy 5, nonphotosensitive
  • OMIM #300953
Tags
Green Green List (high evidence)
RNF168
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RIDDLE syndrome MIM# 611943
  • Radiosensitivity
  • Immune Deficiency
  • Dysmorphic Features
  • Learning difficulties
  • Low IgG or IgA
  • Short stature
  • mild defect of motor control to ataxia
  • normal intelligence to learning difficulties
  • mild facial dysmorphism to microcephaly
Tags
Green Green List (high evidence)
SLF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 1, MIM# 620184
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 anemia, complementation group P, MIM# 613951
  • MONDO:0013499
Tags
Green Green List (high evidence)
SMC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 2, MIM# 620185
Tags
Green Green List (high evidence)
SPRTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200
  • MONDO:0014527
Tags
Green Green List (high evidence)
TOP3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809
Tags
Green Green List (high evidence)
UBE2T
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
  • SV/CNV
Green Green List (high evidence)
XPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group A , MIM#278700
  • MONDO:0010210
Tags
Green Green List (high evidence)
XPC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group C, MIM# 278720
  • MONDO:0010211
Tags
Green Green List (high evidence)
XRCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction, MIM# 616541
  • MONDO:0014686
Tags
Green Green List (high evidence)
ZBTB24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069
  • MONDO:0013553
Tags
Amber Amber List (moderate evidence)
AARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy, MONDO:0018053
  • Trichothiodystrophy 8, nonphotosensitive 619691
Tags
Amber Amber List (moderate evidence)
GTF2E2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
  • MONDO:0014841
Tags
Amber Amber List (moderate evidence)
RMI2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom-like syndrome
Tags
Amber Amber List (moderate evidence)
XRCC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Fanconi anemia, complementation group U, MIM# 617247
Tags
Red Red List (low evidence)
ADAR
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyschromatosis symmetrica hereditaria, MIM# 127400
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)
MAD2L2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Fanconi anemia, complementation group V, MIM# 617243
Tags
Red Red List (low evidence)
MARS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Trichothiodystrophy, MONDO:0018053
  • Trichothiodystrophy 8, nonphotosensitive, MIM# 619691Trichothiodystrophy 9, nonphotosensitive, MIM# 619692
Tags
  • new gene name
Red Red List (low evidence)
RFWD3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Fanconi anemia, complementation group W, MIM# 617784
Tags

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