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Early onset or syndromic epilepsy v8.158 TANC2 Eleanor Williams Phenotypes for gene: TANC2 were changed from Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906 to Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906; intellectual developmental disorder with autistic features and language delay, with or without seizures, MONDO:0030051
Early onset or syndromic epilepsy v8.143 TANC2 Ida Ertmanska Classified gene: TANC2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.143 TANC2 Ida Ertmanska Added comment: Comment on list classification: There are numerous patients reported in literature with heterozygous TANC2 variants and epilepsy. Epilepsy was the sole presenting feature in some cases. Hence, TANC2 should be promoted to Green at the next GMS update.
Early onset or syndromic epilepsy v8.143 TANC2 Ida Ertmanska Gene: tanc2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.142 TANC2 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: TANC2.
Early onset or syndromic epilepsy v8.142 TANC2 Ida Ertmanska Publications for gene: TANC2 were set to 31616000
Early onset or syndromic epilepsy v8.141 TANC2 Ida Ertmanska Phenotypes for gene: TANC2 were changed from Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 to Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906
Early onset or syndromic epilepsy v8.140 TANC2 Ida Ertmanska Mode of inheritance for gene: TANC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v8.139 TANC2 Ida Ertmanska edited their review of gene: TANC2: Changed publications to: 34861844, 40110879
Early onset or syndromic epilepsy v8.139 TANC2 Ida Ertmanska changed review comment from: PMID: 34861844 - boy with Lennox-Gastaut syndrome (LGS), a severe epileptic encephalopathy.

TANC2 is linked to AD Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM:618906 (OMIM accessed 12th Mar 2026).; to: PMID: 40110879 Luo et al., 2025
Trio exome, Chinese cohort of epilepsy patients. De novo TANC2 variants were identified in six unrelated childhood-onset cases (4 null and 2 missense). Patients with null variants exhibited severe phenotypes: 3 with epilepsy and neurodevelopmental disorders, 1 individual with developmental and epileptic encephalopathy (DEE). In contrast, the patients with missense variants presented with only epilepsy.

PMID: 34861844 Tian et al., 2021
Case report of a Chinese boy (1yr 11 mo) with Lennox-Gastaut syndrome (LGS), a severe epileptic encephalopathy. WES + Sanger detected a de novo c.4321C > T(p.Gln1441Ter) mutation in TANC2.

TANC2 is linked to AD Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM:618906 (OMIM accessed 12th Mar 2026).
Early onset or syndromic epilepsy v8.139 TANC2 Ida Ertmanska edited their review of gene: TANC2: Changed publications to: 34861844; Changed phenotypes to: Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906
Early onset or syndromic epilepsy v8.139 TANC2 Ida Ertmanska changed review comment from: PMID: 34861844 - boy with Lennox-Gastaut syndrome (LGS), a severe epileptic encephalopathy.; to: PMID: 34861844 - boy with Lennox-Gastaut syndrome (LGS), a severe epileptic encephalopathy.

TANC2 is linked to AD Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM:618906 (OMIM accessed 12th Mar 2026).
Early onset or syndromic epilepsy v8.139 TANC2 Ida Ertmanska Deleted their comment
Early onset or syndromic epilepsy v8.139 TANC2 Ida Ertmanska commented on gene: TANC2: PMID: 34861844 - boy with Lennox-Gastaut syndrome (LGS), a severe epileptic encephalopathy.
Early onset or syndromic epilepsy v8.139 TANC2 Ida Ertmanska reviewed gene: TANC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.152 TANC2 Arina Puzriakova Phenotypes for gene: TANC2 were changed from NDD syndrome; Neurodevelopmental Disorder; Intellectual disability; Seizures; Epilepsy to Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906
Early onset or syndromic epilepsy v1.379 TANC2 Rebecca Foulger Classified gene: TANC2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.379 TANC2 Rebecca Foulger Added comment: Comment on list classification: Set rating of TANC2 to Amber. Not yet associated with a disorder in OMIM or Gene2Phenotype. One 2019 paper linking TANC2 with epilepsy in 11/20 cases: sufficient unrelated cases in PMID:31616000 but the pathogenicity of the variants has not been confirmed.
Early onset or syndromic epilepsy v1.379 TANC2 Rebecca Foulger Gene: tanc2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.378 TANC2 Rebecca Foulger gene: TANC2 was added
gene: TANC2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TANC2 were set to 31616000
Phenotypes for gene: TANC2 were set to NDD syndrome; Neurodevelopmental Disorder; Intellectual disability; Seizures; Epilepsy
Added comment: Added TANC2 to panel following curation of TANC2 on the Intellectual disability panel. PMID:31616000 (Guo et al, 2019) report 11/20 individuals with a TANC2 variant who had a formal diagnosis of epilepsy (n=9) or who suffered recurrent seizures (n=2).
Sources: Literature