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Intellectual disability syndromic and non-syndromic

Gene: CUX1

Green List (high evidence)

CUX1 (cut like homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000257923
EnsemblGeneIds (GRCh37): ENSG00000257923
OMIM: 116896, Gene2Phenotype
CUX1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Created: 1 Feb 2020, 7:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Global developmental delay with or without impaired intellectual development, MIM#618330

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Global developmental delay with or without impaired intellectual development, MIM#618330
OMIM
116896
Clinvar variants
Variants in CUX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cux1 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cux1 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CUX1 was added gene: CUX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUX1 were set to 25059644; 20510857; 30014507 Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, MIM#618330 Review for gene: CUX1 was set to GREEN gene: CUX1 was marked as current diagnostic