SHROOM3

shroom family member 3
OMIM: 604570, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SHROOM3 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniofacial microsomia MONDO:0015397

Amber SHROOM3 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Anencephaly
  • cleft lip and palate

Amber SHROOM3 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.260

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Anencephaly
  • cleft lip and palate

Amber SHROOM3 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Anencephaly
  • cleft lip and palate