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  3. KANSL1
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IUGR and IGF abnormalities

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 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Andžela Lazdāne (Children's Clinical University Hospital of Latvia). This gene is assiociated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Created: 30 Nov 2021, 10:29 a.m. | Last Modified: 30 Nov 2021, 10:29 a.m.
Panel Version: 1.45
Comment on publications: PMID: 26306646. Additional 12 cases with de novo variants in KANSL1 causing disease, which further indicates that haploinsufficiency for KANSL1 is sufficient to cause the core phenotype.
Created: 30 Nov 2021, 10:28 a.m. | Last Modified: 30 Nov 2021, 10:28 a.m.
Panel Version: 1.44
Created: 30 Nov 2021, 10:28 a.m.
Last Modified: 30 Nov 2021, 10:28 a.m.
Panel version: 1.44

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

Green List (high evidence)

Region: ISCA-37420-Loss wich is in IUGR and IGF abnormalities panel includes KANSL1 gene.
Based on the literature de novo heterozygous truncating mutations in the KANSL1 gene causes symptoms like characteristic facial features, including broad forehead, long face, developmental delay, cleft lip/palate and tubular nose with bulbous nasal tip may manifest also in IUGR.
Sources: Expert list, Literature
Created: 15 Jun 2021, 9:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Koolen-De Vries syndrome; Facial features; Delayed psychomotor development; Intellectual disability

Publications

Created: 15 Jun 2021, 9:14 a.m.

Panel version: 1.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Koolen-De Vries syndrome, OMIM:610443
  • Facial features
  • Delayed psychomotor development
  • Intellectual disability
OMIM
612452
Clinvar variants
Variants in KANSL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

30 Nov 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KANSL1 were set to 22544363

30 Nov 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KANSL1 were set to PMID: 22544363

30 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KANSL1 were changed from Koolen-De Vries syndrome; Facial features; Delayed psychomotor development; Intellectual disability to Koolen-De Vries syndrome, OMIM:610443; Facial features; Delayed psychomotor development; Intellectual disability

15 Jun 2021, Gel status: 0

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

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

gene: KANSL1 was added gene: KANSL1 was added to IUGR and IGF abnormalities. Sources: Expert list,Literature Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to PMID: 22544363 Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome; Facial features; Delayed psychomotor development; Intellectual disability Penetrance for gene: KANSL1 were set to Complete Review for gene: KANSL1 was set to GREEN