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Mendeliome v1.27 MMGT1 Zornitza Stark Phenotypes for gene: MMGT1 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Mendeliome v0.14666 MMGT1 Elena Savva Marked gene: MMGT1 as ready
Mendeliome v0.14666 MMGT1 Elena Savva Gene: mmgt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5289 MMGT1 Bryony Thompson Classified gene: MMGT1 as Amber List (moderate evidence)
Mendeliome v0.5289 MMGT1 Bryony Thompson Gene: mmgt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5288 MMGT1 Bryony Thompson gene: MMGT1 was added
gene: MMGT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MMGT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MMGT1 were set to 33057194
Phenotypes for gene: MMGT1 were set to Developmental disorders
Review for gene: MMGT1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 3 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature