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Prepair 1000+

Gene: KNL1

Green List (high evidence)

KNL1 (kinetochore scaffold 1)
EnsemblGeneIds (GRCh38): ENSG00000137812
EnsemblGeneIds (GRCh37): ENSG00000137812
OMIM: 609173, Gene2Phenotype
KNL1 is in 7 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

KNL1, HGNC:24054. From Mendeliome entry; formerly known as CASC5. Biallelic variants cause Microcephaly 4, primary, autosomal recessive. From OMIM; Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Associated with cognitive impairment.
More than 5 unrelated families reported.
Created: 6 Feb 2025, 6:58 a.m. | Last Modified: 6 Feb 2025, 6:58 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 4, primary, autosomal recessive, MIM# 604321
  • MONDO:0011437
OMIM
609173
Clinvar variants
Variants in KNL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: knl1 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive, 604321 (3) to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KNL1 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KNL1 was added gene: KNL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, 604321 (3)