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Additional findings_Paediatric

Gene: SHANK3

Green List (high evidence)
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.
Created: 6 Jun 2021, 7:21 a.m. | Last Modified: 6 Jun 2021, 7:21 a.m.
Panel Version: 0.224

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

Publications

Created: 6 Jun 2021, 7:21 a.m.
Last Modified: 6 Jun 2021, 7:21 a.m.
Panel version: 0.224

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category A gene
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

History Filter Activity

6 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shank3 has been classified as Green List (High Evidence).

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652

6 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHANK3 were set to

6 Jun 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SHANK3.

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHANK3 was added gene: SHANK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome