1. Genes and Genomic Entities
  2. NHLRC2

NHLRC2

NHL repeat containing 2
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber NHLRC2 in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • FINCA syndrome OMIM:618278
Tags
  • gene-checked
Green NHLRC2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278
    Tags
    • gene-checked
    Green NHLRC2 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • FINCA syndrome OMIM:618278
    Tags
    • gene-checked
    Amber NHLRC2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • FINCA syndrome, OMIM:618278
    Tags
    • Q1_25_ promote_green
    • gene-checked
    Green NHLRC2 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • FINCA syndrome, OMIM:618278
    Tags
    • gene-checked