TRAPPC12

trafficking protein particle complex 12
OMIM: 614139, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TRAPPC12 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Green TRAPPC12 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Green TRAPPC12 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 Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Green TRAPPC12 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Green TRAPPC12 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Red TRAPPC12 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Green TRAPPC12 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Hydrocephaly Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Red TRAPPC12 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669