Activity
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| Ataxia and cerebellar anomalies - narrow panel v5.8 | LNPK | Achchuthan Shanmugasundram Classified gene: LNPK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.8 | LNPK | Achchuthan Shanmugasundram Gene: lnpk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.7 | LNPK |
Achchuthan Shanmugasundram gene: LNPK was added gene: LNPK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to 30032983; 35599435 Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 Review for gene: LNPK was set to AMBER Added comment: PMID:30032983 reported three individuals from two different consanguineous families with homozygous LNPK variants. The only individual from the second family with p.Arg251Ter had ataxia and cerebellar atrophy, while one of two individuals from family 1 (with p.Pro243LeufsTer2 variant) had mild vermian hypoplasia and wide-based gait. PMID:35599435 reported a girl born to consanguineous healthy parent of Turkish descent with a novel LNPK variant (c.770delA/ p.D257fs*31). She presented with ataxia, psychomotor delay, cerebellar dysfunction and myoclonic seizures. Sources: Literature |
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