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Achromatopsia
Additional findings_Paediatric
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Hereditary Spastic Paraplegia Superpanel
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IBMDx study
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Kidneyome_SuperPanel
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Leukodystrophy_Superpanel
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Liverome Superpanel
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Myopathy Superpanel
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Pierre Robin Sequence
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Prepair 1000+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
Progressive Myoclonic Epilepsy
Progressive Neurological Conditions
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Proteinuria
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Renal Cystic Disease_SuperPanel
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Retinal Disorders Superpanel
Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
Sarcoma non-soft tissue
Sarcoma soft tissue
Schwannoma
Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency (absent T present B cells)
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spondylocostal Dysostosis
Spontaneous coronary artery dissection
Stickler Syndrome
Stroke
Susceptibility to Viral Infections
Syndromic Retinopathy
Thyroid Cancer
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vasculitis
Ventricular Fibrillation
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour
Version
Panel Version
1.2656
Gene or Genomic Entity Name
NOTCH2NLC_NIID_GGC
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10 Jun 2025
Mendeliome v1.2652
NOTCH2NLC_NIID_GGC
Bryony Thompson Gene: NOTCH2NL was changed to NOTCH2NLC.
26 Apr 2025
Mendeliome v1.2503
NOTCH2NLC_NIID_GGC
Bryony Thompson NIID was changed to NOTCH2NLC_NIID_GGC