MN1

MN1 proto-oncogene, transcriptional regulator
OMIM: 156100, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MN1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CEBALID syndrome, MIM#618774
  • Intellectual disability
  • dysmophic features
  • rhombencephalosynapsis

Green MN1 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MN1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Conductive and sensorineural hearing loss
  • CEBALID syndrome, MIM# 618774

Green MN1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CEBALID syndrome, MIM#618774
  • Intellectual disability
  • dysmophic features
  • rhombencephalosynapsis

Amber MN1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft palate
  • CEBALID syndrome, MIM# 618774

Green MN1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • CEBALID syndrome, OMIM:618774
  • CEBALID syndrome, MONDO:0032908