Polymicrogyria and Schizencephaly
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 individuals reported with PMG.Created: 6 Oct 2020, 1:55 a.m. | Last Modified: 6 Oct 2020, 2:35 a.m.
Panel Version: 0.150
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrocephaly/autism syndrome, MIM# 605309
Publications
Chloe Stutterd (Victorian Clinical Genetics Services)
Sources: LiteratureCreated: 5 Oct 2020, 11:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
OMIM#605309
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Macrocephaly/autism syndrome, MIM# 605309
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Additional findings_Adult
- Breast Cancer
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Common Variable Immunodeficiency
- Macrocephaly_Megalencephaly
- Facial papules
- Endometrial Cancer
- Leukodystrophy - paediatric
- Polymicrogyria and Schizencephaly
- Callosome
- Autism
- Thyroid Cancer
- Predominantly Antibody Deficiency
- Leukodystrophy - adult onset
- Kidney Cancer
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Incidentalome_PREGEN_DRAFT
- Inflammatory bowel disease
- Vasculitis
- Transplant Co-Morbidity Superpanel
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pten has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PTEN were changed from OMIM#605309 to Macrocephaly/autism syndrome, MIM# 605309
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pten has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chloe Stutterd (Victorian Clinical Genetics Services)gene: PTEN was added gene: PTEN was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 32959437 Phenotypes for gene: PTEN were set to OMIM#605309 Review for gene: PTEN was set to GREEN