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Genetic epilepsy syndromes

Gene: ANKRD11

Green List (high evidence)

ANKRD11 (ankyrin repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel and reviewed Green by Tracy Lester. Although KBG syndrome has variable symptoms, epilepsy can be amongst the phenotypes. Based on literature review and Tracy Lester's review, updated rating from Grey to Green.
Created: 26 May 2020, 2 p.m. | Last Modified: 26 May 2020, 2 p.m.
Panel Version: 2.59
PMID:27900361. Kleyner et al., 2016 describe a 13 yr old male with phenotypes including epilepsy, severe DD, distinct facial features and hand anomalies. Exome sequencing identified a novel de novo heterozygous LOF single bp duplication (c.6015dupA) in ANKRD11, leading to a premature stop codon.
Created: 26 May 2020, 1:58 p.m. | Last Modified: 26 May 2020, 1:58 p.m.
Panel Version: 2.58
PMID:25543316. Samanta et al., 2015 report a 7 yr old boy with a ANKRD11 variant and developmental delay, focal epilepsy and behavioral concerns. He had frequent focal seizures but had enjoyed seizure-free state intermittently up to 9 months. He also had rare secondarily generalized tonic–clonic seizures, less than one episode in a year. After normal EEGs age 1 and 3, an EEG age 5 revealed EEG abnormalities.
Created: 26 May 2020, 1:58 p.m. | Last Modified: 26 May 2020, 1:58 p.m.
Panel Version: 2.58
PMID:30182498. Miao et al., 2019 analysed Chinese Pediatric Epilepsy patients and found a heterozygous de novo p.Arg1462LysfsTer92 ANKRD11 variant in 1 individual.
Created: 26 May 2020, 1:50 p.m. | Last Modified: 26 May 2020, 1:50 p.m.
Panel Version: 2.57

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

KBG syndrome - EEG abnormalities, with or without seizures, have been reported in about 50% of affected individuals [Skjei et al 2007]. Age of onset can range from infancy to the teenage years [Low et al 2016]. The type of epilepsy is variable. Although tonic-clonic seizures are most common, no one specific type of epilepsy has been associated with the syndrome. Treatment with antiepileptic medication has proven effective in the majority of affected individuals. Many have remission of symptoms after adolescence [Lo-Castro et al 2013]. A few affected individuals have reportedly had severe seizures at a young age (described as infantile spasms / epileptic encephalopathy), in some cases drug resistant [C Ockeloen, personal communication; Samanta & Willis 2015]. - taken from GeneReviews, KBG syndrome, last updated Mar2018.
Penetrance of KBG syndrome is thought to be complete, but with variable expressivity.
Also associated with 16q24.3 deletions.
Sources: Expert Review
Created: 22 May 2020, 9:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KBG syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • KBG syndrome, 148050
OMIM
611192
Clinvar variants
Variants in ANKRD11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 May 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ankrd11 has been classified as Green List (High Evidence).

26 May 2020, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ANKRD11 were set to 29565525

26 May 2020, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ANKRD11 were changed from KBG syndrome to KBG syndrome, 148050

22 May 2020, Gel status: 0

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

Tracy Lester (Genetics laboratory, Oxford UK)

gene: ANKRD11 was added gene: ANKRD11 was added to Genetic epilepsy syndromes. Sources: Expert Review Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD11 were set to 29565525 Phenotypes for gene: ANKRD11 were set to KBG syndrome Penetrance for gene: ANKRD11 were set to Complete Review for gene: ANKRD11 was set to GREEN