SLC6A8

solute carrier family 6 member 8
OMIM: 300036, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SLC6A8 in Mendeliome Version 1.3512	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352
Green SLC6A8 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352
Green SLC6A8 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC6A8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352
Green SLC6A8 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 1, 300352 (3)
Green SLC6A8 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Creatine deficiency syndrome, X-linked
Green SLC6A8 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.57 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352
Amber SLC6A8 in Fetal anomalies Version 1.465	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cerebral creatine deficiency syndrome 1 (MIM#300352)
Green SLC6A8 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 1, MIM#300352
Green SLC6A8 in Aminoacidopathy Level 2: Metabolic disorders Version 1.137 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green ClinGen Phenotypes creatine transporter deficiency MONDO:0010305
Amber SLC6A8 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber BabySeq Category A gene Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags for review metabolic
Green SLC6A8 in Prepair 500+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 1, MIM#300352