Genomics England
GMS Panels
Panels
Genes and Entities

AMOTL1

angiomotin like 1
OMIM: 614657
PanelMode of inheritanceDetails
3 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniofaciocardiohepatic syndrome, OMIM:621192, craniofaciocardiohepatic syndrome, MONDO:0978295
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature, Craniofaciocardiohepatic syndrome, OMIM:621192, craniofaciocardiohepatic syndrome, MONDO:0978295
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniofaciocardiohepatic syndrome, OMIM:621192, craniofaciocardiohepatic syndrome, MONDO:0978295