Description
This panel is used for clinical indication 'R110 Segmental overgrowth disorders - Deep sequencing', and can also be applied as a virtual panel in the analysis of genome or exome data 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 'R110 Segmental overgrowth disorders - Deep sequencing'.

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.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K
Panel Activity

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

20 Entities

17 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
AKT1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Proteus syndrome, 176920
  • Proteus syndrome, somatic,176920
  • Macrocephaly and Overgrowth Syndromes
  • Proteus syndrome
  • Segmental Overgrowth Syndrome
Tags
  • mosaicism
Green Green List (high evidence)
AKT3
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
  • Macrocephaly and Overgrowth Syndromes
Tags
  • mosaicism
Green Green List (high evidence)
CCND2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
  • MPPH3
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
Tags
Green Green List (high evidence)
CDKN1C
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
  • BWS
  • Macrocephaly and Overgrowth Syndromes
  • Beckwith-Wiedemann Syndrome
  • Hemiohyperplasia, Isolated, 235000
  • IH
Tags
Green Green List (high evidence)
PADI6
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • Beckwith-Wiedemann syndrome
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Other
  • UKGTN
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501
  • MCAP
  • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918
  • CLOVE syndrome
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Capillary malformation syndrome
  • Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome
  • CLOVES syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome
  • CLOVES
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
  • macrocephaly-capillary malformation (MCM) syndrome
Tags
  • mosaicism
Green Green List (high evidence)
PIK3R2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Tags
Green Green List (high evidence)
PTEN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • BRRS
  • Bannayan-Riley-Ruvalcaba syndrome,153480
  • PHTS
  • PTEN Hamartoma Tumor Syndrome
  • Macrocephaly and Overgrowth Syndromes
  • megalencephaly
  • macrocephaly
  • Bannayan Riley Ruvalcalba Syndrome
  • Bannayan-Riley-Ruvalcaba Syndrome
  • Cowden syndrome
  • Proteus-like syndrome
  • hemihypertrophy
Tags
Green Green List (high evidence)
RASA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkes Weber syndrome, 608355
  • PKWS
  • Parkes Weber Syndrome
Tags
Green Green List (high evidence)
SUZ12
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Imagawa-Matsumoto syndrome 618786
Tags
Amber Amber List (moderate evidence)
AKT2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
  • recurrent-variant
Amber Amber List (moderate evidence)
ARAF
2 reviews
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 Amber
Phenotypes
  • central conducting lymphatic anomaly
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
GJA4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cutaneous and hepatic vascular lesions (no OMIM phenotype)
Tags
  • Q3_23_promote_green
  • recurrent-variant
Amber Amber List (moderate evidence)
NLRP2
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475
Tags
Amber Amber List (moderate evidence)
PIK3R1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Vascular malformation and overgrowth
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
Red Red List (low evidence)
HRAS
0 reviews
 Not set
Sources
  • Other
Phenotypes
  • Hemimegalencephaly
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
Tags
Red Red List (low evidence)
KRAS
0 reviews
 Not set
Sources
  • Other
Phenotypes
  • Hemimegalencephaly
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
Tags
Red Red List (low evidence)
MTOR
1 review
 Not set
Sources
  • UKGTN
Phenotypes
  • Segmental Overgrowth Syndrome
  • Hemimegalencephaly
  • HME
Tags
Red Red List (low evidence)
NRAS
0 reviews
 Not set
Sources
  • Other
Phenotypes
  • Hemimegalencephaly
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
Tags
Red Red List (low evidence)
TBC1D7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Tags

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