Activity
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| Early onset or syndromic epilepsy v8.131 | NRDC |
Ida Ertmanska changed review comment from: PMID: 41734767 Pehlivan et al., 2026 Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants. NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026). Sources: Literature; to: PMID: 41734767 Pehlivan et al., 2026 Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants (some reported previously). Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants. NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026). Sources: Literature |
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| Early onset or syndromic epilepsy v8.131 | NRDC | Ida Ertmanska changed review comment from: Comment on list classification: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic epilepsy. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic epilepsy. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.131 | NRDC | Ida Ertmanska Classified gene: NRDC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.131 | NRDC | Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic epilepsy. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.131 | NRDC | Ida Ertmanska Gene: nrdc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.130 | NRDC | Ida Ertmanska Phenotypes for gene: NRDC were changed from to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.129 | NRDC |
Ida Ertmanska gene: NRDC was added gene: NRDC was added to Early onset or syndromic epilepsy. Sources: Literature Q1_26_promote_green tags were added to gene: NRDC. Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRDC were set to 41734767 Review for gene: NRDC was set to GREEN Added comment: PMID: 41734767 Pehlivan et al., 2026 Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants. NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026). Sources: Literature |
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