KNL1

kinetochore scaffold 1
OMIM: 609173, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green KNL1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	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 Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) 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
Green KNL1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321 Microcephaly 4, primary, autosomal recessive, MONDO:0011437