Genomics England
GMS Panels
Panels
Genes and Entities

FREM1

FRAS1 related extracellular matrix 1
OMIM: 608944
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME 248450
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME 248450
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bifid nose with or without anorectal and renal anomalies, 608980