Description
This panel is used for clinical indication 'R110 Segmental overgrowth disorders', 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'.

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

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local 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

This panel is also a constituent panel of super panel 'Cerebral malformations'. Changes made to this panel will automatically be updated in the relevant super panel(s).

4 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

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

14 Entities

10 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
14 Entitiess
Green Green List (high evidence)
AKT1
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
  • 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, 615937
  • MPPH2
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
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)
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, 603387
  • MPPH1
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1
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
Red Red List (low evidence)
AKT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy,240900
  • Hypoinsulinemic hypoglycemia with hemihypertrophy
  • HIHGHH
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Tags
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, 248000
  • MGCPH
Tags

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