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  3. SHANK3
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Lymphoedema_syndromic

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)

Lymphoedema has been reported.
Created: 6 Jun 2021, 7:20 a.m. | Last Modified: 6 Jun 2021, 7:20 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 6 Jun 2021, 7:20 a.m.
Last Modified: 6 Jun 2021, 7:20 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
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

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 Phelan-McDermid syndrome 606232 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

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHANK3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2020, Gel status: 3

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

Sue White (Victorian Clinical Genetics Services)

gene: SHANK3 was added gene: SHANK3 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome 606232