TMEM216

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Red TMEM216 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.195 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Joubert syndrome 2 (MIM#608091)
Red TMEM216 in Cholestasis Level 2: Gastroenterological disorders Version 1.0 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Meckel syndrome 2, MIM# 603194
Green TMEM216 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296 Tags founder UTR
Green TMEM216 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.28	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296 Tags founder
Green TMEM216 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296 Retinitis pigmentosa, MONDO:0019200, TMEM216-related Tags founder UTR
Green TMEM216 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Green TMEM216 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.26 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 Meckel syndrome 2, MIM# 603194
Red TMEM216 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296
Green TMEM216 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 2 MONDO:0011963
Green TMEM216 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Meckel syndrome 2 603194 Joubert syndrome 2 608091
Green TMEM216 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 2, MIM# 608091
Green TMEM216 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.156 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, TMEM216-related Tags UTR
Green TMEM216 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.219 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Joubert syndrome 2, MIM# 608091
Green TMEM216 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 2, 608091 (3)
Red TMEM216 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Meckel syndrome Joubert syndrome
Green TMEM216 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 Meckel syndrome 2, OMIM:603194 Meckel syndrome, type 2, MONDO:0011296
Green TMEM216 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 2, MIM#608091 Meckel syndrome 2, MIM#603194 Retinitis pigmentosa 98, MIM#620996 ciliopathy MONDO:0005308
Red TMEM216 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Meckel syndrome
Green TMEM216 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 2, 608091 (3)

TMEM216

19 panels

Red TMEM216 in Polymicrogyria and Schizencephaly

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Phenotypes

Red TMEM216 in Cholestasis

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Phenotypes

Green TMEM216 in Ciliopathies

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Phenotypes

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Green TMEM216 in Joubert syndrome and other neurological ciliopathies

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Phenotypes

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Green TMEM216 in Mendeliome

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Phenotypes

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Green TMEM216 in Polydactyly

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Green TMEM216 in Renal Ciliopathies and Nephronophthisis

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Phenotypes

Red TMEM216 in Regression

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Phenotypes

Green TMEM216 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green TMEM216 in Skeletal dysplasia

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Phenotypes

Green TMEM216 in Ataxia - paediatric

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Phenotypes

Green TMEM216 in Retinitis pigmentosa_Autosomal Recessive/X-linked

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Phenotypes

Tags

Green TMEM216 in Syndromic Retinopathy

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Phenotypes

Green TMEM216 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Red TMEM216 in Additional findings_Paediatric

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Phenotypes

Green TMEM216 in Fetal anomalies

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Phenotypes

Green TMEM216 in Prepair 1000+

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Phenotypes

Red TMEM216 in BabyScreen+ newborn screening

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Phenotypes

Green TMEM216 in Prepair 500+

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Phenotypes