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  3. CTR9
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Intellectual disability syndromic and non-syndromic

Gene: CTR9

Green List (high evidence)
CTR9 (CTR9 homolog, Paf1/RNA polymerase II complex component)
EnsemblGeneIds (GRCh38): ENSG00000198730
EnsemblGeneIds (GRCh37): ENSG00000198730
OMIM: 609366, Gene2Phenotype
CTR9 is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in zebrafish also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum).
Created: 2 Mar 2023, 10:57 a.m. | Last Modified: 3 Mar 2023, 11:37 a.m.
Panel Version: 0.5182

Publications

Created: 2 Mar 2023, 10:57 a.m.
Last Modified: 3 Mar 2023, 11:37 a.m.
Panel version: 0.5182

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35499524 - Thirteen individuals with variables degrees of intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, autism spectrum disorder. Mild dysmorphism and cardiac anomalies were less frequent. Eleven of the variants were shown to be de novo.
Sources: Literature
Created: 5 May 2022, 2:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), CTR9-related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258)

Publications

Created: 5 May 2022, 2:11 a.m.

Panel version: 0.4741

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), CTR9-related
OMIM
609366
Clinvar variants
Variants in CTR9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTR9 were set to PMID: 35499524

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctr9 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTR9 were changed from Neurodevelopmental disorder (MONDO:0700092), CTR9-related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258) to Neurodevelopmental disorder (MONDO:0700092), CTR9-related

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctr9 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: CTR9 was added gene: CTR9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTR9 were set to PMID: 35499524 Phenotypes for gene: CTR9 were set to Neurodevelopmental disorder (MONDO:0700092), CTR9-related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258) Review for gene: CTR9 was set to GREEN