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Fetal anomalies

Gene: SHROOM3

Amber List (moderate evidence)

SHROOM3 (shroom family member 3)
EnsemblGeneIds (GRCh38): ENSG00000138771
EnsemblGeneIds (GRCh37): ENSG00000138771
OMIM: 604570, Gene2Phenotype
SHROOM3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P.
Created: 14 Jan 2022, 6:25 a.m. | Last Modified: 14 Jan 2022, 6:25 a.m.
Panel Version: 0.2235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anencephaly; cleft lip and palate

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Anencephaly
  • cleft lip and palate
OMIM
604570
Clinvar variants
Variants in SHROOM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom3 has been classified as Amber List (Moderate Evidence).

20 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom3 has been classified as Red List (Low Evidence).

20 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHROOM3 were changed from NEURAL TUBE DEFECT to Anencephaly; cleft lip and palate

20 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom3 has been classified as Red List (Low Evidence).

20 Jan 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHROOM3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

20 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHROOM3 were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHROOM3 was added gene: SHROOM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT