TBC1D7

TBC1 domain family member 7
OMIM: 612655, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TBC1D7 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Green TBC1D7 in Mendeliome Version 2.588	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Red TBC1D7 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.42 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000
Green TBC1D7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Amber TBC1D7 in Fetal anomalies Version 2.81	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000
Amber TBC1D7_OPDM_CGG STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.8 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Oculopharyngodistal myopathy, TBC1D7-related MONDO:0025193
Amber TBC1D7_OPDM_CGG STR in Repeat Disorders Version 1.15	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Oculopharyngodistal myopathy, TBC1D7-related MONDO:0025193