Genomics England
GMS Panels
Panels
Genes and Entities

NHLRC2

NHL repeat containing 2
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FINCA syndrome OMIM:618278, NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FINCA syndrome, OMIM:618278
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FINCA syndrome, OMIM:618278
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FINCA syndrome OMIM:618278