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| Intellectual disability - microarray and sequencing v3.1519 | GTF2E2 | Ivone Leong Tag Q3_21_rating was removed from gene: GTF2E2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1519 | GTF2E2 | Sarah Leigh commented on gene: GTF2E2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1519 | GTF2E2 |
Ivone Leong Source Expert Review Green was added to GTF2E2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v3.1318 | GTF2E2 |
Arina Puzriakova changed review comment from: Comment on list classification: Two distinct homozygous variants identified in 5 individuals from 4 families who all presented with DD/ID. Despite indication that one of these represents a founder variants, discovery of a distinct homozygous variant in a patient with an overlapping phenotype corroborates pertinence of GTF2E2. Furthermore, there are some supportive functional studies. Overall this is sufficient evidence to promote this gene to Green at the next GMS panel update.; to: Comment on list classification: Two distinct homozygous variants identified in 5 individuals from 4 families who all presented with DD/ID among other features. Despite indication that one of these represents a founder variant, discovery of a distinct homozygous variant in a patient with an overlapping phenotype corroborates pertinence of GTF2E2. Furthermore, there are some supportive in vitro studies that demonstrate functional impairment. Overall this is sufficient evidence to promote this gene to Green at the next GMS panel update. |
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| Intellectual disability - microarray and sequencing v3.1318 | GTF2E2 | Arina Puzriakova Classified gene: GTF2E2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1318 | GTF2E2 |
Arina Puzriakova Added comment: Comment on list classification: Two distinct homozygous variants identified in 5 individuals from 4 families who all presented with DD/ID. Despite indication that one of these represents a founder variants, discovery of a distinct homozygous variant in a patient with an overlapping phenotype corroborates pertinence of GTF2E2. Furthermore, there are some supportive functional studies. Overall this is sufficient evidence to promote this gene to Green at the next GMS panel update. |
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| Intellectual disability - microarray and sequencing v3.1318 | GTF2E2 | Arina Puzriakova Gene: gtf2e2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1317 | GTF2E2 |
Arina Puzriakova Tag watchlist was removed from gene: GTF2E2. Tag Q3_21_rating tag was added to gene: GTF2E2. |
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| Intellectual disability - microarray and sequencing v3.1317 | GTF2E2 | Arina Puzriakova reviewed gene: GTF2E2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996949, 28973399; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, OMIM:616943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1317 | GTF2E2 | Arina Puzriakova Publications for gene: GTF2E2 were set to 30914295; 26996949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1316 | GTF2E2 | Arina Puzriakova Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, 616943 to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.981 | GTF2E2 | Catherine Snow Tag watchlist tag was added to gene: GTF2E2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.979 | GTF2E2 | Catherine Snow Mode of inheritance for gene GTF2E2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.978 | GTF2E2 |
Catherine Snow gene: GTF2E2 was added gene: GTF2E2 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: GTF2E2 was set to Publications for gene: GTF2E2 were set to 30914295; 26996949 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943 |
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