Mandibulofacial Acrofacial dysostosis
Gene: SHROOM3EnsemblGeneIds (GRCh38): ENSG00000138771
EnsemblGeneIds (GRCh37): ENSG00000138771
OMIM: 604570, Gene2Phenotype
SHROOM3 is in 4 panels
1 review
Chirag Patel (Genetic Health Queensland)
SHROOM3 has been implicated in facial development via GWAS, with association between SHROOM3 and HFM, cleft lip/palate, orofacial clefts, and neural tube defects. Human embryo expression data shows that SHROOM3 is mainly expressed in craniofacial mesoderm, neural progenitor cells, and somites in the head and trunk regions. Mouse Genome Informatics data shows that Shroom3 is expressed in various tissues during different stages of embryonic development, including the head mesenchyme, ear, eye, face, and nose.
Li et al. (2025) performed SHROOM3 gene sequencing in 320 sporadic hemifacial microsomia patients. They identified 7 individuals with 7 deleterious missense variants (MAF <0.005, CADD >20, predicted deleterious with >3 silico tools). No in vitro/in vivo functional studies to assess the consequences of the variants and their role in HFM.
Sources: LiteratureCreated: 6 Feb 2025, 4:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniofacial microsomia MONDO:0015397
Publications
- PMID: 39875538
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Craniofacial microsomia MONDO:0015397
- OMIM
- 604570
- Clinvar variants
- Variants in SHROOM3
- Penetrance
- None
- Publications
-
- PMID: 39875538
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SHROOM3 was added gene: SHROOM3 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHROOM3 were set to PMID: 39875538 Phenotypes for gene: SHROOM3 were set to Craniofacial microsomia MONDO:0015397 Review for gene: SHROOM3 was set to AMBER