SPART

spartin
OMIM: 607111, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red SPART in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services

Green SPART in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review Unknown
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green

No list SPART in Incidentalome


Version 1.0

2 reviews Unknown
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services

Green SPART in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Troyer syndrome, MIM# 275900
  • SPG20
  • MONDO:0010156

Green SPART in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Troyer syndrome, MIM# 275900
  • SPG20
  • MONDO:0010156

Green SPART in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Troyer syndrome 275900

Green SPART in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Troyer syndrome, MIM# 275900
  • SPG20
  • MONDO:0010156

Green SPART in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Troyer syndrome, 275900 (3)

Green SPART in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Troyer syndrome (MIM#275900)
  • SPG20
  • MONDO:0010156