SLC16A2

solute carrier family 16 member 2
OMIM: 300095, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SLC16A2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Allan-Herndon-Dudley syndrome MIM#300523
Green SLC16A2 in Mendeliome Version 1.2374	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523
Green SLC16A2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523
Green SLC16A2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523
Green SLC16A2 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.141 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 paroxysmal dyskinesia (passive movement trigger) neurodevelopmental disability, hypotonia
Green SLC16A2 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523
Green SLC16A2 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Hypomyelination
Green SLC16A2 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.87 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Allan-Herndon-Dudley syndrome, 300523, XL
Green SLC16A2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Allan-Herndon-Dudley syndrome
Green SLC16A2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Allan-Herndon-Dudley syndrome
Green SLC16A2 in Hyperthyroidism Level 2: Endocrine disorders Version 0.23	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523
Green SLC16A2 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.48	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523
Amber SLC16A2 in Fetal anomalies Version 1.314	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523
Green SLC16A2 in Prepair 1000+ Level 2: Screening Version 1.1586	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Allan-Herndon-Dudley syndrome, MIM #300523
Amber SLC16A2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber BabySeq Category A gene Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags clinical trial
Green SLC16A2 in Prepair 500+ Level 2: Screening Version 1.5	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Allan-Herndon-Dudley syndrome