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  2. Growth failure
  3. KANSL1
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Growth failure

Gene: KANSL1

Green List (high evidence)
KANSL1 (KAT8 regulatory NSL complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000120071
EnsemblGeneIds (GRCh37): ENSG00000120071
OMIM: 612452, Gene2Phenotype
KANSL1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Short stature in around a third of affected individuals.
Sources: Expert Review
Created: 3 Dec 2021, 7:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Koolen-De Vries syndrome (MIM#610443)

Publications

Created: 3 Dec 2021, 7:03 a.m.

Panel version: 1.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Koolen-De Vries syndrome (MIM#610443)
Tags
SV/CNV
OMIM
612452
Clinvar variants
Variants in KANSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kansl1 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kansl1 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KANSL1 was added gene: KANSL1 was added to Growth failure. Sources: Expert Review SV/CNV tags were added to gene: KANSL1. Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KANSL1 were set to 22544363 Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome (MIM#610443) Review for gene: KANSL1 was set to GREEN