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| Intellectual disability v9.359 | ATG12 | Ida Ertmanska changed review comment from: Comment on list classification: There are 5 unrelated families reported in literature with individuals harbouring biallelic ATG12 variants and presenting with intellectual disability / psychomotor delay. Hence, this gene should be upgraded to Green for Intellectual disability.; to: Comment on list classification: There are 5 unrelated families reported in literature with individuals harbouring biallelic ATG12 variants and presenting with intellectual disability / psychomotor delay. This association is supported by a zebrafish model, where atg12 knockout results in developmental delay and impaired brain funciton. Hence, this gene should be upgraded to Green for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.359 | ATG12 |
Ida Ertmanska changed review comment from: PMID: 41895291 Lambton et al, 2026 Homozygous and compound heterozygous variants in ATG12 reported in 6 individuals from five unrelated families with neurodevelopmental disorder with hypotonia, seizures (all 6 individuals with variable severity), ataxia, developmental delay and / or intellectual disability (seen in all 5 families), corpus callosum hypoplasia (4/5 individuals) and hypoplasia of the cerebellar vermis (5/5 individuals assessed). Other less consistent MRI findings: reduced white and gray matter, polymicrogyria, cerebellocerebral atrophy, thinning of pons, brainstem hypomyelination, and more. 4/6 individuals died before age 5 years. Family 1: 2 sibs with ATG12 variants c.359A>C, p.Tyr120Ser and c.363+3A>T (demonstrated to cause exon 3 skipping) Family 2: proband with a homozygous variant c.413C>T, p.Ala138Val Family 3 : proband with a homozygous variant c.359A>C p.Tyr.120Ser Family 4: proband S5 comp het for ATG12 variants c.235C>T (p.Arg79∗) & c.359A>C p.Tyr.120Ser Family 5: proabdn with homozygous missense variant c.324T>G (p.Phe108Leu) This gene has no disease association in OMIM (accessed 1st Apr 2026). Sources: Literature; to: PMID: 41895291 Lambton et al, 2026 Homozygous and compound heterozygous variants in ATG12 reported in 6 individuals from five unrelated families with neurodevelopmental disorder with hypotonia, seizures (all 6 individuals with variable severity), ataxia, developmental delay and / or intellectual disability (seen in all 5 families), corpus callosum hypoplasia (4/5 individuals) and hypoplasia of the cerebellar vermis (5/5 individuals assessed). Other less consistent MRI findings: reduced white and gray matter, polymicrogyria, cerebellocerebral atrophy, thinning of pons, brainstem hypomyelination, and more. 4/6 individuals died before age 5 years. Family 1: 2 sibs with ATG12 variants c.359A>C, p.Tyr120Ser and c.363+3A>T (demonstrated to cause exon 3 skipping) Family 2: proband with a homozygous variant c.413C>T, p.Ala138Val Family 3 : proband with a homozygous variant c.359A>C p.Tyr.120Ser Family 4: proband S5 comp het for ATG12 variants c.235C>T (p.Arg79∗) & c.359A>C p.Tyr.120Ser Family 5: proband with homozygous missense variant c.324T>G (p.Phe108Leu) Functional: Loss of atg12 function in zebrafish causes developmental delay, impaired brain function, and pre-adult lethality. This gene has no disease association in OMIM (accessed 1st Apr 2026). Sources: Literature |
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| Intellectual disability v9.359 | ATG12 | Ida Ertmanska Classified gene: ATG12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.359 | ATG12 | Ida Ertmanska Added comment: Comment on list classification: There are 5 unrelated families reported in literature with individuals harbouring biallelic ATG12 variants and presenting with intellectual disability / psychomotor delay. Hence, this gene should be upgraded to Green for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.359 | ATG12 | Ida Ertmanska Gene: atg12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.358 | ATG12 |
Ida Ertmanska gene: ATG12 was added gene: ATG12 was added to Intellectual disability. Sources: Literature Q2_26_promote_green tags were added to gene: ATG12. Mode of inheritance for gene: ATG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG12 were set to 41895291 Phenotypes for gene: ATG12 were set to neurodevelopmental disorder, MONDO:0700092; Hypoplasia of the corpus callosum, HP:0002079; Cerebellar hypoplasia, HP:0001321 Review for gene: ATG12 was set to GREEN Added comment: PMID: 41895291 Lambton et al, 2026 Homozygous and compound heterozygous variants in ATG12 reported in 6 individuals from five unrelated families with neurodevelopmental disorder with hypotonia, seizures (all 6 individuals with variable severity), ataxia, developmental delay and / or intellectual disability (seen in all 5 families), corpus callosum hypoplasia (4/5 individuals) and hypoplasia of the cerebellar vermis (5/5 individuals assessed). Other less consistent MRI findings: reduced white and gray matter, polymicrogyria, cerebellocerebral atrophy, thinning of pons, brainstem hypomyelination, and more. 4/6 individuals died before age 5 years. Family 1: 2 sibs with ATG12 variants c.359A>C, p.Tyr120Ser and c.363+3A>T (demonstrated to cause exon 3 skipping) Family 2: proband with a homozygous variant c.413C>T, p.Ala138Val Family 3 : proband with a homozygous variant c.359A>C p.Tyr.120Ser Family 4: proband S5 comp het for ATG12 variants c.235C>T (p.Arg79∗) & c.359A>C p.Tyr.120Ser Family 5: proabdn with homozygous missense variant c.324T>G (p.Phe108Leu) This gene has no disease association in OMIM (accessed 1st Apr 2026). Sources: Literature |
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