Genomics England
GMS Panels
Panels
Genes and Entities

FILIP1

filamin A interacting protein 1
OMIM: 607307
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis multiplex congenita, MONDO:0015168
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FILIP1-related arthrogryposis multiplex congenita with microcephaly
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuromuscular disorder, congenital, with dysmorphic facies, OMIM:620775
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, MONDO:0001071