Description
This panel is used for clinical indication 'R229 Confirmed Fanconi anaemia or Bloom syndrome - mutation testing' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R229 Confirmed Fanconi anaemia or Bloom syndrome - mutation testing'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/508/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (23/09/2019).
This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

4 reviewers

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Steve Keeney (Central Manchester Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mandy nesbitt (Healthcare Professional)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

22 Entities

22 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green Green List (high evidence)
BLM
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 210900 Bloom syndrome
  • Bloom syndrome, 210900
Tags
Green Green List (high evidence)
BRCA1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi anemia
  • 617883 Fanconi anemia, complementation group S
Tags
Green Green List (high evidence)
BRCA2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 605724 Fanconi anemia, complementation group D1
  • Fanconi anemia, complementation group D1, 605724
Tags
Green Green List (high evidence)
BRIP1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 609054 Fanconi anemia, complementation group J
  • Fanconi anemia, complementation group J, 609054
Tags
Green Green List (high evidence)
ERCC4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • 615272 Fanconi anemia, complementation group Q
Tags
Green Green List (high evidence)
FANCA
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi anemia
  • 227650 Fanconi anemia complementation group A
Tags
Green Green List (high evidence)
FANCB
4 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Falcon anemia
  • Fanconi Anemia Type B
  • 300514 Fanconi anemia, complementation group B
  • Fanconi Anemia, X-Linked
  • Fanconi Anaemia
  • Fanconi anemia, complementation group B, 300514
Tags
Green Green List (high evidence)
FANCC
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • 227645 Fanconi anemia, complementation group C
  • Fanconi anemia, complementation group C, 227645
Tags
Green Green List (high evidence)
FANCD2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • 227646 Fanconi anemia, complementation group D2
  • Fanconi anemia, complementation group D2, 227646
Tags
Green Green List (high evidence)
FANCE
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group E, 600901
  • 600901 Fanconi anemia, complementation group E
Tags
Green Green List (high evidence)
FANCF
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • 603467 Fanconi anemia, complementation group F
  • Fanconi anemia, complementation group F, 603467
Tags
Green Green List (high evidence)
FANCG
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • 614082 Fanconi anemia, complementation group G
  • Fanconi anemia, complementation group G, 614082
Tags
Green Green List (high evidence)
FANCI
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi anemia, complementation group I, 609053
  • Fanconi Anemia
  • 609053 Fanconi anemia, complementation group I
Tags
Green Green List (high evidence)
FANCL
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group L, 614083
  • 614083Fanconi anemia, complementation group L
Tags
Green Green List (high evidence)
PALB2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi anemia, complementation group N, 610832
  • 610832 Fanconi anemia, complementation group N
Tags
Green Green List (high evidence)
SLX4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • 613951 Fanconi Anemia Fanconi anemia, complementation group P
  • Fanconi anemia, complementation group P, 613951
Tags
Green Green List (high evidence)
TOP3A
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2
  • 618097 MGRISCE2 (Bloom-like syndrome)
  • MGRISCE2 (Bloom-like syndrome) 618097
Tags
Green Green List (high evidence)
UBE2T
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 616435 Fanconi anemia, complementation group T
  • Falcon anemia
  • Fanconi anemia, complementation group T, 616435
Tags
Amber Amber List (moderate evidence)
MAD2L2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • North West GLH
  • Yorkshire and North East GLH
Phenotypes
  • ?Fanconi anemia, complementation group V, 617243
  • 617243 ?Fanconi anemia, complementation group V
Tags
Amber Amber List (moderate evidence)
RAD51C
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi anemia, complementation group O, 613390
  • 613390 Fanconi anemia, complementation group O
Tags
Red Red List (low evidence)
FANCM
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fanconi Anemia
  • 614087Fanconi anemia, complementation group M
  • Fanconi anemia, complementation group M, 614087
Tags
Red Red List (low evidence)
XRCC2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • 617247 ?Fanconi anemia, complementation group U
Tags

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