Genomics England
GMS Panels
Panels
Genes and Entities

FBRSL1

fibrosin like 1
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defect, Congenital malformations
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, Microcephaly, Heart defect, Cleft palate, Contractures, Hearing impairment, Skin creases
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, Microcephaly, Heart defect, Cleft palate, Contractures, Hearing impairment, Skin creases