Cerebral Palsy
Gene: SHANK3EnsemblGeneIds (GRCh38): ENSG00000251322
EnsemblGeneIds (GRCh37): ENSG00000251322
OMIM: 606230, Gene2Phenotype
SHANK3 is in 12 panels
2 reviews
Luisa Weiss (University of Adelaide)
Two larger cohort studies with one patient each presenting with CP and harboring a heterozygous de novo frameshift mutation in SHANK3.
Note that deletions are common in the 22q11.2 microdeletion syndrome and more likely associated with language and speech delay or autism. Other nonsense mutations in SHANK3 have been largely associated to ID with language and speech delay.Created: 31 Jul 2023, 4:32 a.m. | Last Modified: 31 Jul 2023, 4:32 a.m.
Panel Version: 1.144
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phelan-McDermid syndrome MIM#606232
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Note deletions are common. ID with severe speech impairment/autistic features but movement disorders are not prominent, so limited overlap clinically with CP.
Sources: Expert listCreated: 23 Sep 2021, 3:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phelan-McDermid syndrome, MIM# 606232
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Phelan-McDermid syndrome, MIM# 606232
- OMIM
- 606230
- Clinvar variants
- Variants in SHANK3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SHANK3 were set to 17173049
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shank3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shank3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SHANK3 was added gene: SHANK3 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHANK3 were set to 17173049 Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232 Review for gene: SHANK3 was set to RED