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Regression

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

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Regression has been reported in several individuals with Phelan-McDermid syndrome due to SHANK3 variants or deletions encompassing this gene.
Sources: Literature
Created: 24 Oct 2020, 10:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
# 606232. PHELAN-MCDERMID SYNDROME - PHMDS

Publications

Created: 24 Oct 2020, 10:15 p.m.

Panel version: 0.180

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Phelan-McDermid syndrome, MIM# 606232
  • MONDO:0011652
Tags
SV/CNV
OMIM
606230
Clinvar variants
Variants in SHANK3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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.

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Oct 2020, 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).

25 Oct 2020, 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).

24 Oct 2020, Gel status: 0

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

Konstantinos Varvagiannis (Other)

gene: SHANK3 was added gene: SHANK3 was added to Regression. Sources: Literature Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHANK3 were set to 32050889, 29719671 Phenotypes for gene: SHANK3 were set to # 606232. PHELAN-MCDERMID SYNDROME - PHMDS Penetrance for gene: SHANK3 were set to Complete Review for gene: SHANK3 was set to GREEN