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| Intellectual disability v3.1562 | LINGO4 | Arina Puzriakova Tag gene-checked tag was added to gene: LINGO4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | LINGO4 | Ivone Leong Tag Q3_21_rating was removed from gene: LINGO4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | LINGO4 | Sarah Leigh commented on gene: LINGO4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | LINGO4 |
Ivone Leong Source Expert Review Green was added to LINGO4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.1301 | LINGO4 | Arina Puzriakova Classified gene: LINGO4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1301 | LINGO4 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There a sufficient unrelated cases with a relevant phenotype to rate as Green at the next GMS panel update. ----- PMID: 33098801 - 4 individuals from 3 unrelated families harbouring private biallelic variants in this gene which co-segregated with disease. 4/4 cases presented with GDD and ID. |
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| Intellectual disability v3.1301 | LINGO4 | Arina Puzriakova Gene: lingo4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1300 | LINGO4 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: LINGO4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1216 | LINGO4 |
Zornitza Stark gene: LINGO4 was added gene: LINGO4 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: LINGO4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINGO4 were set to 33098801 Phenotypes for gene: LINGO4 were set to Intellectual disability; speech disorder Review for gene: LINGO4 was set to GREEN gene: LINGO4 was marked as current diagnostic Added comment: 3 unrelated individuals reported with bi-allelic variants in this gene and neurodevelopmental disorder: 1 x individual compound heterozygous for 2x missense variants: c.679C>A; c.1262G>A p.Leu227Met; p.Arg421Gln. Phenotype: infancy-onset generalized dystonia; ID, speech disorder 1 x individual homozygous for missense variant: c.679C>A p.Leu227Met Phenotype: ID, speech disorder 1 x individual homozygous for missense variant: c.1673G>A p.Ser558Asn Phenotype: ID, speech disorder Sources: Literature |
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