TBC1D7

Panel	Reviews	Mode of inheritance	Details
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Amber TBC1D7 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Amber TBC1D7 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Red TBC1D7 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000
Amber TBC1D7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Amber TBC1D7 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000

5 panels