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Autism

Gene: SHANK1

Green List (high evidence)
SHANK1 (SH3 and multiple ankyrin repeat domains 1)
EnsemblGeneIds (GRCh38): ENSG00000161681
EnsemblGeneIds (GRCh37): ENSG00000161681
OMIM: 604999, Gene2Phenotype
SHANK1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, SHANK1-related

Created: 28 Jan 2022, 4:21 a.m.
Last Modified: 28 Jan 2022, 4:21 a.m.
Panel version: 0.168

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

SHANK1 missense and deletion variants have been described in multiple male patients (>10) with autism spectrum disorder. Several of the patients analysed in detail had normal intellect using various different IQ tests, with mild to moderately severe ADI-R scores for social, verbal, non-verbal and repetitive behaviour (Leblond et al 2014).
Sources: Literature
Created: 30 Dec 2019, 11:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 30 Dec 2019, 11:22 p.m.

Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SHANK1-related
OMIM
604999
Clinvar variants
Variants in SHANK1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

28 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHANK1 were changed from Autism to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shank1 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHANK1 were changed from to Autism

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shank1 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 1

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

Sebastian Lunke (Victorian Clinical Genetics Services)

gene: SHANK1 was added gene: SHANK1 was added to Autism_VCGS. Sources: Literature Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK1 were set to 25188300; 22503632 Penetrance for gene: SHANK1 were set to unknown Review for gene: SHANK1 was set to GREEN