BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: SHANK3

SHANK3 (SH3 and multiple ankyrin repeat domains 3)
EnsemblGeneIds (GRCh38): ENSG00000251322
EnsemblGeneIds (GRCh37): ENSG00000251322
OMIM: 606230, Gene2Phenotype
SHANK3 is in 5 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_201507; find_uk10k; gilissen_2014_known; sfari_20150206; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; gonzalez_mantilla_2016; GEL_ID_green_20160217; neuro_20160418_strict; NA
Created: 7 Feb 2017, 4:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Phelan-McDermid syndrome, 606232; {Schizophrenia 15}, 613950; Rett syndrome (RTT)

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:53 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

Phenotypes

Phelan-McDermid syndrome, 606232
{Schizophrenia 15}, 613950
Rett syndrome (RTT)

OMIM

606230

Clinvar variants

Variants in SHANK3

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SHANK3 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source