1. Genes and Genomic Entities
  2. KNL1

KNL1

kinetochore scaffold 1
OMIM: 609173, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green KNL1 in Severe microcephaly


Level 2: Neurology
Version 8.36
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Microcephaly 4, primary, autosomal recessive, OMIM:604321
  • Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Green KNL1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly 4, primary, autosomal recessive, OMIM:604321
  • Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Green KNL1 in DDG2P


Version 6.447
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
    • MONDO:0011437
    • KNL1-related primary microcephaly
    • OMIM:604321.0
    Green KNL1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    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 Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Microcephaly 4, primary, autosomal recessive, OMIM:604321
    • Microcephaly 4, primary, autosomal recessive, MONDO:0011437