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  3. SHANK3
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Speech apraxia

Gene: SHANK3

Amber List (moderate 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

Thomas Scerri (Murdoch Children's Research Institute)

I don't know

First reported CAS case with a de novo SHANK3 frameshift variant (Kaspi et al., 2022; PMID: 36117209).

Brignell et al. (2021; PMID: 33293697) report 2 cases of CAS in a cohort of individuals with Phelan-McDermid/22q13 deletion syndrome, caused by heterozygous loss of function of SHANK3.
Sources: Expert list, Expert Review
Created: 28 Jun 2024, 5:52 a.m. | Last Modified: 1 Jul 2024, 11:11 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Phelan-McDermid syndrome, MIM# 606232

Publications

Created: 28 Jun 2024, 5:52 a.m.
Last Modified: 1 Jul 2024, 11:11 a.m.
Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Phelan-McDermid syndrome, MIM# 606232
OMIM
606230
Clinvar variants
Variants in SHANK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shank3 has been classified as Amber List (Moderate Evidence).

28 Jun 2024, 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).

28 Jun 2024, 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).

28 Jun 2024, Gel status: 0

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

Thomas Scerri (Murdoch Children's Research Institute)

gene: SHANK3 was added gene: SHANK3 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHANK3 were set to 36117209; 33293697 Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232 Review for gene: SHANK3 was set to GREEN