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| Malformations of cortical development v7.46 | 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: 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; 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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| Malformations of cortical development v7.46 | ATG12 | Ida Ertmanska Classified gene: ATG12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.46 | 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 corpus callosum hypoplasia and hypoplasia of the cerebellar vermis on brain MRI, along with other less consistent cortical findings. Hence, this gene should be upgraded to Green for Malformations of cortical development. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.46 | ATG12 | Ida Ertmanska Gene: atg12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.45 | 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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| Malformations of cortical development v7.45 | ATG12 |
Ida Ertmanska gene: ATG12 was added gene: ATG12 was added to Malformations of cortical development. 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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