Submission Details


multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
PAN2 was first reported in relation to Autosomal recessive form of syndromic neurodevelopmental disorder and multiple congenital anomalies in 2018 (Maddirevula S, et al., 2018, PMID: 29620724). At least 4 unique variants (e.g. indels, splice variant and nonsense) have been reported in humans with similar phenotype. Variants in this gene have been reported in at least 6 affected in 2 publications (PMID: 29620724; PMID: 35304602). Mice homozygous for an ENU-induced allele exhibit embryonic lethality (MGI:1918984). No convincing contradictory evidence has emerged. Two publications with convincing evidence and no convincing contradictory evidence classified PAN2 as definitive. Gene is scored according to ClinGen classification.
PubMed IDs:
29620724 35304602
Assertion Criteria:
Submitter Submitted Date:

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