Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.100 | BHLHE22 | Ida Ertmanska Classified gene: BHLHE22 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.100 | BHLHE22 | Ida Ertmanska Gene: bhlhe22 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.99 | BHLHE22 | Ida Ertmanska Classified gene: BHLHE22 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.99 | BHLHE22 | Ida Ertmanska Added comment: Comment on list classification: There are 11 individuals reported in literature with a BHLHE22-related neurodevelopmental disorder - some harboured monoallelic and some biallelic variants. None of the heterozygous individuals presented with epilepsy, but 4/7 probands with biallelic variants did. Hence, this gene can be promoted to Green on 'Early onset or syndromic epilepsy', with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.99 | BHLHE22 | Ida Ertmanska Gene: bhlhe22 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.98 | BHLHE22 |
Ida Ertmanska gene: BHLHE22 was added gene: BHLHE22 was added to Early onset or syndromic epilepsy. Sources: Literature Q4_26_promote_green tags were added to gene: BHLHE22. Mode of inheritance for gene: BHLHE22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BHLHE22 were set to 42586785 Phenotypes for gene: BHLHE22 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: BHLHE22 was set to GREEN Added comment: PMID: 42586785 - 11 individuals from 9 unrelated families with BHLHE22 variants, presenting with a neurodevelopmental disorder including absent or limited speech, impaired motor function, intellectual disability, involuntary movements, autistic traits, abnormal muscle tone. Most had partial or complete agenesis of the corpus callosum, and some also showed epilepsy (4/7 biallelic cases), dysmorphic features, and eye anomalies. Four individuals had de novo missense variants within the helix-loop-helix domain, and seven carried a recurrent homozygous frameshift variant, p.(Gly74Alafs*18). Mice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum, recapitulating the structural anomalies seen in affected humans. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||