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Intellectual disability v8.234 TMLHE Arina Puzriakova Classified gene: TMLHE as Amber List (moderate evidence)
Intellectual disability v8.234 TMLHE Arina Puzriakova Added comment: Comment on list classification: Promoting to Amber as two unrelated families have been reported with moderate ID in association with this gene. This gene is otherwise linked to ASD susceptibility and the phenotype in these families may be explained by the more severe consequence (truncating) of their identified variants.

However, caution should be taken in the future if this gene is being considered for a diagnostic panel as pathogenicity remains unclear and it has been listed as non-disease gene.
Intellectual disability v8.234 TMLHE Arina Puzriakova Gene: tmlhe has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.233 TMLHE Arina Puzriakova Added comment: Comment on publications: PMID: 39845198 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.233 TMLHE Arina Puzriakova Publications for gene: TMLHE were set to 39845198; 23092983
Intellectual disability v8.231 TMLHE Arina Puzriakova Publications for gene: TMLHE were set to
Intellectual disability v8.230 TMLHE Arina Puzriakova reviewed gene: TMLHE: Rating: ; Mode of pathogenicity: None; Publications: 39845198, 23092983; Phenotypes: {Autism, susceptibility to, X-linked 6}, OMIM:300872; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v2.468 TMLHE Louise Daugherty Source Victorian Clinical Genetics Services was added to TMLHE.