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Intellectual disability syndromic and non-syndromic

Gene: SHROOM4

Red List (low evidence)

SHROOM4 (shroom family member 4)
EnsemblGeneIds (GRCh38): ENSG00000158352
EnsemblGeneIds (GRCh37): ENSG00000158352
OMIM: 300579, Gene2Phenotype
SHROOM4 is in 5 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

DISPUTED by ClinGen ID and Autism GCEP on 13/01/2021 - https://search.clinicalgenome.org/CCID:006141
Created: 20 May 2024, 12:41 a.m. | Last Modified: 20 May 2024, 12:41 a.m.
Panel Version: 0.5821

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
X-linked complex neurodevelopmental disorder MONDO:0100148

Publications

  • https://search.clinicalgenome.org/CCID:006141

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families only.
Created: 18 Feb 2020, 7:25 a.m. | Last Modified: 18 Feb 2020, 7:25 a.m.
Panel Version: 0.2196

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Stocco dos Santos X-linked mental retardation syndrome, 300434
  • Intellectual disability
Tags
disputed
OMIM
300579
Clinvar variants
Variants in SHROOM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom4 has been classified as Red List (Low Evidence).

20 May 2024, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SHROOM4.

18 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom4 has been classified as Amber List (Moderate Evidence).

18 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability

18 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHROOM4 were set to

18 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

18 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom4 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHROOM4 was added gene: SHROOM4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHROOM4 was set to Unknown