Clefting disorders
Gene: SHROOM3
SHROOM3 (shroom family member 3)
EnsemblGeneIds (GRCh38): ENSG00000138771
EnsemblGeneIds (GRCh37): ENSG00000138771
OMIM: 604570, Gene2Phenotype
SHROOM3 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000138771
EnsemblGeneIds (GRCh37): ENSG00000138771
OMIM: 604570, Gene2Phenotype
SHROOM3 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert ReviewCreated: 15 Feb 2021, 6:28 a.m.
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
- Expert Review
- Phenotypes
-
- Anencephaly
- cleft lip and palate
- OMIM
- 604570
- Clinvar variants
- Variants in SHROOM3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
15 Feb 2021, 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).
15 Feb 2021, 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).
15 Feb 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SHROOM3 was added gene: SHROOM3 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHROOM3 were set to 32621286 Phenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate Review for gene: SHROOM3 was set to AMBER