PIK3CA

Red PIK3CA in Familial Neural Tube Defects

Version 1.10

Sources

• Other
• UKGTN

Phenotypes

• Clove Syndrome
• Cloves syndrome

Red PIK3CA in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen
• Literature

Phenotypes

• Cowden syndrome 5 615108

Red PIK3CA in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.10

Sources

• Expert Review

Phenotypes

• One publication showing mutations in Cowden. Await confirmation.

Red PIK3CA in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Yorkshire and North East GLH
• NHS GMS
• Expert Review Red
• Other
• UKGTN
• Radboud University Medical Center, Nijmegen

Phenotypes

• Cerebral cavernous malformations 4, somatic, OMIM:619538

Tags

• somatic

Green PIK3CA in Hydrocephalus

Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501

Tags

• somatic

Green PIK3CA in Segmental overgrowth disorders - Deep sequencing

Version 3.17
Latest signed off version: v3.3 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• UKGTN
• Emory Genetics Laboratory
• Expert Review

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

Red PIK3CA in Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 3.6
Latest signed off version: v3.0 (30 Nov 2022)

Sources

• Expert Review Red
• UKGTN

Phenotypes

• Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
• Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Red PIK3CA in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review

Phenotypes

• 1 report of several families in PTEN-negative Cowden

Green PIK3CA in Limb disorders

Version 5.2
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Macrodactyly, somatic 155500
• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
• CLOVE syndrome, somatic 612918
• Polydactyly
• CLAPO syndrome, somatic 613089

Tags

• mosaicism
• somatic

Green PIK3CA in Pigmentary skin disorders

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• MCAP
• PIK3CA-related overgrowth syndromes
• MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
• Vascular malformations

Green PIK3CA in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• UKGTN
• Expert Review

Phenotypes

• Polymicrogyria, hemimegalencephaly, macrocephaly

Green PIK3CA in Mosaic skin disorders - deep sequencing

Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• PIK3CA-related overgrowth syndromes
• Vascular malformations

Green PIK3CA in Vascular skin disorders

Version 1.63
Latest signed off version: v1.3 (15 Oct 2020)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• PIK3CA-related overgrowth syndromes
• Vascular malformation, MONDO:0024291

No list PIK3CA in Multiple monogenic benign skin tumours

Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• Expert Review Removed
• London North GLH
• NHS GMS

Phenotypes

• Vascular malformations
• PIK3CA-related overgrowth syndromes

Tags

• curated_removed

Red PIK3CA in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS

Phenotypes

• CLOVES 612918

Green PIK3CA in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120

Sources

• Expert Review Green
• Other

Phenotypes

• Human overgrowth syndrome type
• Overgrowth with Intellectual disability
• CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI

Green PIK3CA in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3
• CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
• HEMIMEGALENCEPHALY PIK3CA

Tags

• mosaicism

Green PIK3CA in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• HEMIMEGALENCEPHALY PIK3CA
• CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918
• MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501

Tags

• mosaicism

Red PIK3CA in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• Wessex and West Midlands GLH
• NHS GMS
• Victorian Clinical Genetics Services

Phenotypes

• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501

Tags

• mosaicism
• somatic

Green PIK3CA in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501
• Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040

Tags

• mosaicism
• somatic

Green PIK3CA in Neurological segmental overgrowth

Version 2.13
Latest signed off version: v2.12 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Cowden syndrome 5, OMIM:615108
• CLAPO syndrome, somatic, OMIM:613089
• CLOVE syndrome, somatic, OMIM:612918
• Macrodactyly, somatic, OMIM:155500
• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501

Green PIK3CA in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• PIK3CA-related Overgrowth Spectrum