Description
This panel is used for clinical indication 'R347 Inherited predisposition to acute myeloid leukaemia (AML)' 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 'R347 Inherited predisposition to acute myeloid leukaemia (AML)'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.
Panel Activity

8 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

  • Paula Page (WWMGLH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Claire Palles (University of Birmingham)

    Group: GeCIP domain
    Workplace: Research lab

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

16 Entities

16 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green Green List (high evidence)
ANKRD26
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Thrombocytopenia 2, OMIM:188000
  • Acute myeloid leukemia, MONDO:0018874
Tags
Green Green List (high evidence)
CEBPA
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • ?Leukemia, acute myeloid, OMIM:601626
  • Leukemia, acute myeloid, somatic, OMIM:601626
  • Acute myeloid leukemia, MONDO:0018874
Tags
Green Green List (high evidence)
DDX41
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871
  • DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809
Tags
Green Green List (high evidence)
ETV6
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Leukemia, acute myeloid, somatic, OMIM:601626
  • Thrombocytopenia 5, OMIM:616216
  • Acute myeloid leukemia, MONDO:0018874
Tags
Green Green List (high evidence)
GATA2
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • {Leukemia, acute myeloid, susceptibility to}, OMIM:601626
  • {Myelodysplastic syndrome, susceptibility to}, OMIM:614286
  • Emberger syndrome, OMIM:614038
Tags
Green Green List (high evidence)
MBD4
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Multi-organ tumour predisposition syndrome
  • Adenomatous colorectal polyposis
  • Colorectal cancer
  • Acute myeloid leukemia
  • Uveal melanoma
Tags
Green Green List (high evidence)
RUNX1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Leukemia, acute myeloid, OMIM:601626
  • Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399
Tags
Green Green List (high evidence)
SAMD9L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270
Tags
Green Green List (high evidence)
TERC
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 1, OMIM:127550
  • {Aplastic anemia}, OMIM:614743
Tags
Green Green List (high evidence)
TERT
6 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • {Leukemia, acute myeloid}, OMIM:601626
  • Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
  • Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Tags
Green Green List (high evidence)
TP53
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Li-Fraumeni syndrome, OMIM:151623
  • Li-Fraumeni syndrome 1, MONDO:0007903
Tags
Amber Amber List (moderate evidence)
ACD
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Tags
Amber Amber List (moderate evidence)
CHEK2
5 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 609265 Li-Fraumeni syndrome
  • 609265 (OMIM phenotype description ID)
Tags
Amber Amber List (moderate evidence)
RTEL1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Research
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 4, OMIM:615190
  • Dyskeratosis congenita, autosomal recessive 5, OMIM:615190
Tags
Amber Amber List (moderate evidence)
SAMD9
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Research
Phenotypes
  • Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041
Tags
Amber Amber List (moderate evidence)
SRP72
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 602122 (OMIN gene description ID)
  • 602122 Bone marrow failure syndrome 1
Tags

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