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| Regression v0.533 | LNPK |
Lilian Downie gene: LNPK was added gene: LNPK was added to Regression. Sources: Literature Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to PMID: 35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090 Review for gene: LNPK was set to GREEN Added comment: Moderate to severe ID, majority of patients 10/15 have period of regression Epilepsy (myoclonic frequently) Structural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy. Microcephaly, macrocephaly and normal head circumference described. Sources: Literature |
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| Regression v0.323 | POLR3K |
Zornitza Stark gene: POLR3K was added gene: POLR3K was added to Regression. Sources: Expert Review Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310 Review for gene: POLR3K was set to AMBER Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. Sources: Expert Review |
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| Regression v0.227 | BSCL2 |
Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to Regression. Sources: Expert Review Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSCL2 were set to 23564749; 27452399 Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy 615924 Review for gene: BSCL2 was set to GREEN Added comment: Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance. At least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect). Sources: Expert Review |
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| Regression v0.84 | SPG11 |
Zornitza Stark gene: SPG11 was added gene: SPG11 was added to Regression. Sources: Expert Review Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 21381113; 22554690; 19224311; 18067136; 27820618 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668; Amyotrophic lateral sclerosis 5, juvenile, MIM#602099 Review for gene: SPG11 was set to GREEN gene: SPG11 was marked as current diagnostic Added comment: Complex neurological phenotypes with onset in first and second decade, characterised by gradual deterioration. Sources: Expert Review |
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| Regression v0.39 | CAD | Zornitza Stark Marked gene: CAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.39 | CAD | Zornitza Stark Gene: cad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.39 | CAD | Zornitza Stark Classified gene: CAD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.39 | CAD | Zornitza Stark Gene: cad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.38 | CAD |
Zornitza Stark gene: CAD was added gene: CAD was added to Regression_VCGS. Sources: Expert list Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAD were set to 28007989; 25678555 Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457 Review for gene: CAD was set to GREEN Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition. Sources: Expert list |
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