UNK

Inheritance Pattern: AR

Disease ID:MONDO:0100038

Submitter: LiferaOmics

Genetic evidence – Published (AR scope) No scorable published cases of biallelic (autosomal recessive) UNK variants causing a defined neurodevelopmental disorder were identified in the literature. Published genetic evidence total = 0 / 12 Published (AD context; not scored for AR) PMID: 33057194 – Large-scale developmental disorder sequencing study identifying genes enriched for de novo (monoallelic) variants in neurodevelopmental phenotypes. This represents a dominant/de novo context and is not scorable under the autosomal recessive model. PMID: 31785789 – Cohort-based neurodevelopmental disorder sequencing study focused on de novo enrichment analyses. No biallelic AR UNK cases reported. Not scorable for AR. ClinGen Gene–Disease Validity curation – No autosomal recessive neurodevelopmental disorder has been curated for UNK. No AR classification exists. AD-context evidence total (not scored for AR) = 0 Genetic evidence – Our case Family 1 – One proband. Case-level (biallelic predicted null in AR model; homozygous frameshift; consanguinity −0.5 applied) = 1.5; Consanguinity deduction = −0.5; Case-level score = 1.0; Segregation = 0; Case-control = 0 Family 1 total = 1.0 Total genetic evidence (published AR + our case) 1.0 / 12 Experimental evidence – Published (conservative and phenotype-aligned) No experimental evidence was scored at this time. Although UNK has reported roles in neuronal development in model systems, there is currently no experimental evidence directly modeling or functionally validating an autosomal recessive UNK-related neurodevelopmental disorder with phenotype alignment sufficient for scoring under ClinGen criteria. Experimental evidence total = 0 / 6 Overall score Genetic evidence = 1.0 Experimental evidence = 0 Total = 1.0