Autism
Gene: SHANK3

SHANK3 (SH3 and multiple ankyrin repeat domains 3)
EnsemblGeneIds (GRCh38): ENSG00000251322
EnsemblGeneIds (GRCh37): ENSG00000251322
OMIM: 606230, Gene2Phenotype
SHANK3 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features. Well established gene-disease association, deletions are common. Multiple individuals reported in Rett-like cohorts, PMID 30842224.
Created: 6 Jun 2021, 7:15 a.m. | Last Modified: 6 Jun 2021, 7:15 a.m.

Panel Version: 0.155

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652

Publications

Created: 6 Jun 2021, 7:15 a.m.
Last Modified: 6 Jun 2021, 7:15 a.m.
Panel version: 0.155

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Phelan-McDermid syndrome, MIM# 606232
MONDO:0011652

Tags

SV/CNV

OMIM

606230

Clinvar variants

Variants in SHANK3

Penetrance

None

Publications

Panels with this gene