PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
30 actions
Mendeliome v1.2439 KCTD10 Bryony Thompson Marked gene: KCTD10 as ready
Mendeliome v1.2439 KCTD10 Bryony Thompson Gene: kctd10 has been classified as Green List (High Evidence).
Mendeliome v1.2439 KCTD10 Bryony Thompson Classified gene: KCTD10 as Green List (high evidence)
Mendeliome v1.2439 KCTD10 Bryony Thompson Gene: kctd10 has been classified as Green List (High Evidence).
Mendeliome v1.2438 KCTD10 Bryony Thompson gene: KCTD10 was added
gene: KCTD10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCTD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCTD10 were set to 24705121; 24430697; 38489388; 40121532
Phenotypes for gene: KCTD10 were set to multiple congenital anomalies/dysmorphic syndrome MONDO:0019042, KCTD10-related
Review for gene: KCTD10 was set to GREEN
Added comment: Two unrelated probands with multiple congenital anomalies, both with abnormalities of the cardiovascular system and confirmed de novo novel missense variants (p.R248Q and p.N169S). There were also additional individuals (<5) in the GeneDx in-house database who didn’t consent to case-level publication with confirmed de novo missesne variants in KCTD10 and overlapping phenotypes (100% with abnormalities of the cardiovascular system). Other congenital anomalies of different organs systems were present in 33-67% of the individuals. Further elucidation of the phenotypes associated with this gene are required. Additionally, null mouse and zebrafish models suggest Kctd10 is critical for cardiovascular development and is involved in the regulation of brain development.
Sources: Literature
Mendeliome v1.1475 KCTD13 Elena Savva Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.1474 KCTD13 Elena Savva Phenotypes for gene: KCTD13 were changed from Intellectual disability; seizures to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related
Mendeliome v0.9810 KCTD1 Zornitza Stark Marked gene: KCTD1 as ready
Mendeliome v0.9810 KCTD1 Zornitza Stark Gene: kctd1 has been classified as Green List (High Evidence).
Mendeliome v0.9810 KCTD1 Zornitza Stark Phenotypes for gene: KCTD1 were changed from to Scalp-ear-nipple syndrome MIM#181270
Mendeliome v0.9809 KCTD1 Zornitza Stark Publications for gene: KCTD1 were set to
Mendeliome v0.9808 KCTD1 Zornitza Stark Mode of inheritance for gene: KCTD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9779 KCTD1 Ain Roesley reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9396 KCTD13 Zornitza Stark Marked gene: KCTD13 as ready
Mendeliome v0.9396 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Mendeliome v0.9396 KCTD13 Zornitza Stark Phenotypes for gene: KCTD13 were changed from to Intellectual disability; seizures
Mendeliome v0.9395 KCTD13 Zornitza Stark Publications for gene: KCTD13 were set to PMID: 33409479
Mendeliome v0.9394 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Mendeliome v0.9393 KCTD13 Zornitza Stark Classified gene: KCTD13 as Red List (low evidence)
Mendeliome v0.9393 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Mendeliome v0.9392 KCTD13 Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9392 KCTD13 Daniel Flanagan gene: KCTD13 was added
gene: KCTD13 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCTD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD13 were set to PMID: 33409479
Review for gene: KCTD13 was set to RED
Added comment: Mouse model and in vitro evidence suggesting the deletion of KCTD13 has a similar metabolic affect as adenylosuccinate lyase deficiency, which has seizures and autistic features.
Sources: Expert list
Mendeliome v0.5146 KCTD17 Zornitza Stark Marked gene: KCTD17 as ready
Mendeliome v0.5146 KCTD17 Zornitza Stark Gene: kctd17 has been classified as Green List (High Evidence).
Mendeliome v0.5146 KCTD17 Zornitza Stark Phenotypes for gene: KCTD17 were changed from to Dystonia 26, myoclonic MIM#616398
Mendeliome v0.5145 KCTD17 Zornitza Stark Publications for gene: KCTD17 were set to
Mendeliome v0.5144 KCTD17 Zornitza Stark Mode of inheritance for gene: KCTD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5143 KCTD17 Zornitza Stark reviewed gene: KCTD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983243, 30642807, 30579817; Phenotypes: Dystonia 26, myoclonic MIM#616398; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 KCTD17 Zornitza Stark gene: KCTD17 was added
gene: KCTD17 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCTD17 was set to Unknown
Mendeliome v0.0 KCTD1 Zornitza Stark gene: KCTD1 was added
gene: KCTD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCTD1 was set to Unknown