Intellectual disability - microarray and sequencing
Gene: CSTF2
Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.Created: 4 May 2023, 8:41 a.m. | Last Modified: 4 May 2023, 8:41 a.m.
Panel Version: 5.100
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability, MONDO:0001071
Publications
Four individuals from a single family, spanning two generations, segregating a missense variant. Functional data, including a mouse model and a gene reporter assay.Created: 3 Feb 2022, 8:01 a.m. | Last Modified: 3 Feb 2022, 8:01 a.m.
Panel Version: 3.1496
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
On candidate gene list in PMID: 26350204, but no further evidence for ID could be found.Created: 27 Oct 2017, 2:46 p.m.
Publications
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
Phenotypes for gene: CSTF2 were changed from to Intellectual disability, MONDO:0001071
Publications for gene: CSTF2 were set to 26350204; 32816001
Publications for gene: CSTF2 were set to 26350204; 32816001
Publications for gene: CSTF2 were set to 26350204; 32816001
Publications for gene: CSTF2 were set to 26350204; 32816001
Publications for gene: CSTF2 were set to 26350204; 32816001
Publications for gene: CSTF2 were set to 26350204; 32816001
Publications for gene: CSTF2 were set to 26350204
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Gene: cstf2 has been classified as Amber List (Moderate Evidence).
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
Publications for gene CSTF2 was set to ['26350204']
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
CSTF2 was added to Intellectual disabilitypanel. Sources: Expert Review Red
CSTF2 was created by ellenmcdonagh