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  2. Macrocephaly_Megalencephaly
  3. CTR9
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Macrocephaly_Megalencephaly

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional two individuals reported who had macrocephaly in addition to ID.
Sources: Literature
Created: 13 Jul 2022, 10:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Macrocephaly

Publications

Created: 13 Jul 2022, 10:22 a.m.

Panel version: 0.114

Details

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

History Filter Activity

13 Jul 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).

13 Jul 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTR9 was added gene: CTR9 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTR9 were set to 35499524; 35717577 Phenotypes for gene: CTR9 were set to Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Macrocephaly Review for gene: CTR9 was set to GREEN