A: The variant NC_000022.11:g.38120867T>G in gene PLA2G6 is classified as 'Pathogenic/Likely_pathogenic' for Neurodegeneration_with_brain_iron_accumulation_2B|Autosomal_recessive_Parkinson_disease_14|Cerebellar_ataxia|Congenital_cerebellar_hypoplasia|Global_developmental_delay|Developmental_regression|Microcephaly|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217,Orphanet:35069|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953,Orphanet:199351|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.