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Joubert syndrome and other neurological ciliopathies v1.27 TOPORS Zornitza Stark Phenotypes for gene: TOPORS were changed from Joubert syndrome, MONDO:0018772, TOPORS-related to Joubert syndrome, MONDO:0018772, TOPORS-related
Joubert syndrome and other neurological ciliopathies v1.26 TOPORS Zornitza Stark Marked gene: TOPORS as ready
Joubert syndrome and other neurological ciliopathies v1.26 TOPORS Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v1.26 TOPORS Zornitza Stark Tag founder tag was added to gene: TOPORS.
Joubert syndrome and other neurological ciliopathies v1.26 TOPORS Zornitza Stark Phenotypes for gene: TOPORS were changed from macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay to Joubert syndrome, MONDO:0018772, TOPORS-related
Joubert syndrome and other neurological ciliopathies v1.25 TOPORS Zornitza Stark Classified gene: TOPORS as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v1.25 TOPORS Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v1.24 TOPORS Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Regions of homozygosity found in these three probands.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.
This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697).

Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Regions of homozygosity on chromosome 9 that includes the TOPORS gene was found in these three probands.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.
This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697).

Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.24 TOPORS Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Regions of homozygosity found in these three probands.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.
This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697).

Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Regions of homozygosity found in these three probands.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.
This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697).

Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.24 TOPORS Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Regions of homozygosity found in these three probands.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.
This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697).

Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Regions of homozygosity found in these three probands.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.
This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697).

Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.24 TOPORS Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands.
Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Regions of homozygosity found in these three probands.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.
This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697).

Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.24 TOPORS Hazel Phillimore gene: TOPORS was added
gene: TOPORS was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOPORS were set to PMID: 37227088; 34132027
Phenotypes for gene: TOPORS were set to macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay
Review for gene: TOPORS was set to AMBER
Added comment: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.
Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.
Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.24 Zornitza Stark HPO terms changed from to Molar tooth sign on MRI, HP:0002419; Joubert syndrome, MONDO:0018772
List of related panels changed from to Molar tooth sign on MRI; HP:0002419; Joubert syndrome; MONDO:0018772
Joubert syndrome and other neurological ciliopathies v1.23 SLC30A7 Alison Yeung Marked gene: SLC30A7 as ready
Joubert syndrome and other neurological ciliopathies v1.23 SLC30A7 Alison Yeung Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v1.23 SLC30A7 Alison Yeung Classified gene: SLC30A7 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v1.23 SLC30A7 Alison Yeung Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v1.22 SLC30A7 Naomi Baker gene: SLC30A7 was added
gene: SLC30A7 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC30A7 were set to PMID: 35751429
Phenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related
Review for gene: SLC30A7 was set to AMBER
Added comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.22 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Joubert syndrome and other neurological ciliopathies v1.21 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 14, MIM# 619879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.21 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like
Joubert syndrome and other neurological ciliopathies v1.20 SUFU Zornitza Stark Publications for gene: SUFU were set to 28965847
Joubert syndrome and other neurological ciliopathies v1.19 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.18 SUFU Zornitza Stark Classified gene: SUFU as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.18 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark edited their review of gene: SUFU: Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like, Joubert syndrome 32, MIM# 617757
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS.
Clinical features included congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 34675124; Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v1.16 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, MIM# 619582
Joubert syndrome and other neurological ciliopathies v1.15 IFT74 Zornitza Stark reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 40, MIM# 619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.15 TMEM218 Zornitza Stark Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Joubert syndrome and other neurological ciliopathies v1.14 TMEM218 Zornitza Stark reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.14 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Joubert syndrome and other neurological ciliopathies v1.14 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.14 LAMA1 Zornitza Stark Classified gene: LAMA1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.14 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.14 LAMA1 Zornitza Stark Classified gene: LAMA1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.14 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.13 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 34423300
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, MIM# 615960
Review for gene: LAMA1 was set to GREEN
Added comment: Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients -- included due to phenotypic overlap.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.12 PDE6D Chirag Patel Classified gene: PDE6D as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.12 PDE6D Chirag Patel Gene: pde6d has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.11 PDE6D Chirag Patel reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.11 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from ?Orofaciodigital syndrome XV 617127; Joubert syndrome to ?Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM# 619476
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.9 KIAA0556 Zornitza Stark gene: KIAA0556 was added
gene: KIAA0556 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
new gene name tags were added to gene: KIAA0556.
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 26714646; 27245168
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784
Review for gene: KIAA0556 was set to GREEN
Added comment: 5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v1.8 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Joubert syndrome and other neurological ciliopathies v1.7 CEP104 Zornitza Stark edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770
Joubert syndrome and other neurological ciliopathies v1.7 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Joubert syndrome and other neurological ciliopathies v1.7 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, MIM# 614615 to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Joubert syndrome and other neurological ciliopathies v1.6 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to 22425360
Joubert syndrome and other neurological ciliopathies v1.5 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.
Joubert syndrome and other neurological ciliopathies v1.5 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Chirag Patel Classified gene: IFT74 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Chirag Patel Gene: ift74 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.4 IFT74 Chirag Patel gene: IFT74 was added
gene: IFT74 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to PMID: 33531668
Phenotypes for gene: IFT74 were set to Joubert syndrome
Review for gene: IFT74 was set to GREEN
Added comment: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.3 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Joubert syndrome and other neurological ciliopathies v1.2 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name KATNIP
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Tag new gene name tag was added to gene: KIAA0586.
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Classified gene: CEP120 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.1 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 27208211; 33486889; 29847808
Phenotypes for gene: CEP120 were set to Joubert syndrome 31, MIM# 617761
Review for gene: CEP120 was set to GREEN
Added comment: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v1.0 Zornitza Stark promoted panel to version 1.0
Joubert syndrome and other neurological ciliopathies v0.162 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Joubert syndrome and other neurological ciliopathies v0.162 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.162 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Joubert syndrome and other neurological ciliopathies v0.161 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Joubert syndrome and other neurological ciliopathies v0.160 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.159 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Tag founder tag was added to gene: TMEM216.
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194 to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194 to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194
Joubert syndrome and other neurological ciliopathies v0.158 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194
Joubert syndrome and other neurological ciliopathies v0.157 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Joubert syndrome and other neurological ciliopathies v0.156 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.155 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091, Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.155 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Joubert syndrome and other neurological ciliopathies v0.155 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.155 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Joubert syndrome and other neurological ciliopathies v0.154 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Joubert syndrome and other neurological ciliopathies v0.153 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.152 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: 22282472, 28102635, 27434533; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.152 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Joubert syndrome and other neurological ciliopathies v0.152 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.152 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896
Joubert syndrome and other neurological ciliopathies v0.151 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Joubert syndrome and other neurological ciliopathies v0.150 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.149 TCTN3 Zornitza Stark reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.149 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Joubert syndrome and other neurological ciliopathies v0.149 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.149 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Joubert syndrome and other neurological ciliopathies v0.148 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Joubert syndrome and other neurological ciliopathies v0.147 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.146 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.146 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Joubert syndrome and other neurological ciliopathies v0.146 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.146 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13, MIM# 614173 to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Joubert syndrome and other neurological ciliopathies v0.145 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173
Joubert syndrome and other neurological ciliopathies v0.144 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Joubert syndrome and other neurological ciliopathies v0.143 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.142 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21725307, 26477546, 31302911, 26489806, 22693042; Phenotypes: Joubert syndrome 13, MIM# 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.142 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Joubert syndrome and other neurological ciliopathies v0.142 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.142 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561
Joubert syndrome and other neurological ciliopathies v0.141 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Joubert syndrome and other neurological ciliopathies v0.140 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.139 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 17558409, 17558407, 17960139, 26071364; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.139 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Joubert syndrome and other neurological ciliopathies v0.139 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.139 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM# 300804
Joubert syndrome and other neurological ciliopathies v0.138 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Joubert syndrome and other neurological ciliopathies v0.137 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Joubert syndrome and other neurological ciliopathies v0.136 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19800048, 22353940, 32944789, 30895720; Phenotypes: Joubert syndrome 10, MIM# 300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Joubert syndrome and other neurological ciliopathies v0.136 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Joubert syndrome and other neurological ciliopathies v0.136 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.136 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361
Joubert syndrome and other neurological ciliopathies v0.135 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Joubert syndrome and other neurological ciliopathies v0.134 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.133 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 16415887, 17377820, 17160906, 19508969; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.133 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Joubert syndrome and other neurological ciliopathies v0.133 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.133 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010
Joubert syndrome and other neurological ciliopathies v0.132 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Joubert syndrome and other neurological ciliopathies v0.131 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.130 NPHP3 Zornitza Stark Classified gene: NPHP3 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.130 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.129 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583
Joubert syndrome and other neurological ciliopathies v0.128 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Joubert syndrome and other neurological ciliopathies v0.127 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.126 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285; Phenotypes: Joubert syndrome 4, MIM# 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.126 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Joubert syndrome and other neurological ciliopathies v0.126 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.126 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571
Joubert syndrome and other neurological ciliopathies v0.125 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Joubert syndrome and other neurological ciliopathies v0.124 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.123 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.123 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Joubert syndrome and other neurological ciliopathies v0.123 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.123 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120
Joubert syndrome and other neurological ciliopathies v0.122 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Joubert syndrome and other neurological ciliopathies v0.121 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.120 KIF7 Zornitza Stark reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21552264, 21633164, 19666503, 30445565, 26648833, 26349186, 26174511, 25714560; Phenotypes: Joubert syndrome 12, MIM# 200990, Acrocallosal syndrome, MIM# 200990, MONDO:0008708, Hydrolethalus syndrome 2, MIM# 614120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.120 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Joubert syndrome and other neurological ciliopathies v0.120 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.120 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944
Joubert syndrome and other neurological ciliopathies v0.119 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Joubert syndrome and other neurological ciliopathies v0.118 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.117 INPP5E Zornitza Stark edited their review of gene: INPP5E: Changed phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944
Joubert syndrome and other neurological ciliopathies v0.117 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.117 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Joubert syndrome and other neurological ciliopathies v0.116 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Joubert syndrome and other neurological ciliopathies v0.116 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.116 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636
Joubert syndrome and other neurological ciliopathies v0.115 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Joubert syndrome and other neurological ciliopathies v0.114 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.113 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.113 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Joubert syndrome and other neurological ciliopathies v0.113 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.113 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Joubert syndrome and other neurological ciliopathies v0.112 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Joubert syndrome and other neurological ciliopathies v0.111 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.110 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134 to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134
Joubert syndrome and other neurological ciliopathies v0.109 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Joubert syndrome and other neurological ciliopathies v0.108 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.107 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16682973, 16682970, 17705300, 33370260, 32600475; Phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.107 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Joubert syndrome and other neurological ciliopathies v0.107 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.107 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Joubert syndrome and other neurological ciliopathies v0.106 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Joubert syndrome and other neurological ciliopathies v0.105 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.104 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.103 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185
Review for gene: TOGARAM1 was set to GREEN
Added comment: Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.102 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Joubert syndrome and other neurological ciliopathies v0.102 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.102 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615
Joubert syndrome and other neurological ciliopathies v0.101 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Joubert syndrome and other neurological ciliopathies v0.100 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.99 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360; Phenotypes: Joubert syndrome 17, MIM# 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.99 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Joubert syndrome and other neurological ciliopathies v0.99 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.99 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM# 614175; Meckel syndrome 10, MIM# 614175
Joubert syndrome and other neurological ciliopathies v0.98 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Joubert syndrome and other neurological ciliopathies v0.97 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.96 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481, 32726168; Phenotypes: Joubert syndrome 34, MIM# 614175, Meckel syndrome 10, MIM# 614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.96 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Joubert syndrome and other neurological ciliopathies v0.96 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.96 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Joubert syndrome and other neurological ciliopathies v0.95 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Joubert syndrome and other neurological ciliopathies v0.94 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.93 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.93 SUFU Chirag Patel Classified gene: SUFU as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.93 SUFU Chirag Patel Gene: sufu has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.92 SUFU Chirag Patel reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33024317; Phenotypes: congenital ocular motor apraxia (forme fruste of Joubert syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.91 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.89 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.88 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Joubert syndrome and other neurological ciliopathies v0.87 PIBF1 Zornitza Stark Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Joubert syndrome and other neurological ciliopathies v0.86 PIBF1 Zornitza Stark edited their review of gene: PIBF1: Added comment: Another family reported.; Changed publications: 26167768, 30858804, 29695797, 33004012
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Joubert syndrome and other neurological ciliopathies v0.85 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Joubert syndrome and other neurological ciliopathies v0.84 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.83 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Marked gene: CENPF as ready
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Classified gene: CENPF as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.82 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Joubert syndrome and other neurological ciliopathies v0.82 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.82 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Joubert syndrome and other neurological ciliopathies v0.81 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Joubert syndrome and other neurological ciliopathies v0.80 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.79 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Zornitza Stark Marked gene: ARL3 as ready
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Zornitza Stark Gene: arl3 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Bryony Thompson Classified gene: ARL3 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.78 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.77 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Joubert syndrome and other neurological ciliopathies v0.77 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.77 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120
Joubert syndrome and other neurological ciliopathies v0.76 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Joubert syndrome and other neurological ciliopathies v0.75 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.74 B9D1 Zornitza Stark Classified gene: B9D1 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.74 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.73 B9D1 Zornitza Stark reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24886560, 21493627, 25920555; Phenotypes: Meckel syndrome 9, MIM# 614209, Joubert syndrome 27, MIM# 617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Added comment: Comment when marking as ready: Not entirely clear at this stage whether this is a ciliopathy.
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis (MIM#603671) to Acromelic frontonasal dysostosis (MIM#603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Joubert syndrome and other neurological ciliopathies v0.71 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.71 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.70 ZNF423 Crystle Lee gene: ZNF423 was added
gene: ZNF423 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ZNF423 were set to 22863007
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 (MIM#614844)
Mode of pathogenicity for gene: ZNF423 was set to Other
Review for gene: ZNF423 was set to AMBER
Added comment: Limited reports, single publication in 2012 reported AD and AR inheritance. Mechanism not well established. Pending additional reports.

2 Turkish sibs with Joubert syndrome with homozygous mutation in the ZNF423 gene.
Two additional patients with Joubert syndrome were found to carry heterozygous ZNF423 mutations , which caused a dominant-negative effect on protein function in cellular studies. Published variants not present in gnomAD at unexpected frequencies and minimal LoF variants in gnomAD
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.70 ZSWIM6 Crystle Lee gene: ZSWIM6 was added
gene: ZSWIM6 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671)
Review for gene: ZSWIM6 was set to AMBER
Added comment: There are some phenotypic overlap, primarily skeletal abnormalities.

PMID: 25105228: 4 pts with AFND (Arg1163Trp)

PMID: 28213462; AFND caused by this gene was classified as "Likely ciliopathy"

PMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features". No functional studies performed but postulated to be dominant-negative.
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.70 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Joubert syndrome and other neurological ciliopathies v0.70 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.70 DDX59 Zornitza Stark Classified gene: DDX59 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.70 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.69 ICK Zornitza Stark Marked gene: ICK as ready
Joubert syndrome and other neurological ciliopathies v0.69 ICK Zornitza Stark Gene: ick has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.69 ICK Zornitza Stark Classified gene: ICK as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.69 ICK Zornitza Stark Gene: ick has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.68 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Joubert syndrome and other neurological ciliopathies v0.68 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.68 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.68 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.67 EVC Zornitza Stark Marked gene: EVC as ready
Joubert syndrome and other neurological ciliopathies v0.67 EVC Zornitza Stark Gene: evc has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.67 EVC Zornitza Stark Classified gene: EVC as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.67 EVC Zornitza Stark Gene: evc has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.66 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Joubert syndrome and other neurological ciliopathies v0.66 GLI3 Zornitza Stark Gene: gli3 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.66 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.65 GLI3 Zornitza Stark Classified gene: GLI3 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.65 GLI3 Zornitza Stark Gene: gli3 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.64 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Joubert syndrome and other neurological ciliopathies v0.64 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.64 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Joubert syndrome and other neurological ciliopathies v0.63 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.63 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.62 CENPF Crystle Lee gene: CENPF was added
gene: CENPF was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 25564561; 28407396; 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome (MIM#243605)
Review for gene: CENPF was set to AMBER
Added comment: Stromme syndrome is well reported as a ciliopathy phenotype with some overlapping JS features although does not seem to be consistent between patients. Amber for this panel

PMID: 25564561; Waters 2015; 2 families reported. Ciliopathy features such as cerebellar vermis hypoplasia and cleft palate reported in one family. Functional studies performed.
PMID: 28407396; Ozkinay 2017; 1 family reported. Brain MRI showed lissecephaly.
PMID: 26820108; Filges 2016; 2 families reported.
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.62 DDX59 Crystle Lee gene: DDX59 was added
gene: DDX59 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to 29127725; 23972372; 28711741
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V (MIM#174300)
Review for gene: DDX59 was set to GREEN
Added comment: Overlapping JS features including cerebellar vermis hypoplasia, cleft palate and postaxial polydactyly. 4 or 5 families reported to date and functional studies performed.

PMID: 29127725; 1 family with OFD
PMID: 23972372; 2 different hom variants reported in 2 families. Functional studies showed impaired ciliary signaling
PMID: 28711741; Same hom variant reported in 2 apparently unrelated consang families. Cerebellar vermis hypoplasia reported in 1 patient
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.62 ICK Crystle Lee gene: ICK was added
gene: ICK was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 27466187; 24797473; 24853502
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia (MIM#612651)
Review for gene: ICK was set to AMBER
Added comment: 3 families reported, functional studies and animal models. Primarily a skeletal ciliopathy and rare reports of brain and cerebellar malformations. Amber for this panel.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.62 DHCR7 Crystle Lee gene: DHCR7 was added
gene: DHCR7 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 23059950
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome (MIM#270400)
Review for gene: DHCR7 was set to AMBER
Added comment: Not a ciliopathy however presents with many overlapping JS features including central nervous system anomalies, cleft palate, postaxial polydactyly

PanelApp UK: Important differential diagnosis of ciliopathy
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.62 EVC Crystle Lee gene: EVC was added
gene: EVC was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EVC were set to 23220543
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome (MIM#225500)
Review for gene: EVC was set to AMBER
Added comment: Well established ciliopathy gene, primarily with skeletal manifestations and rare reports of cerebellar malformations (Dandy-Walker malformation)
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.62 GLI3 Crystle Lee gene: GLI3 was added
gene: GLI3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510)
Review for gene: GLI3 was set to AMBER
Added comment: Ciliopathy with some overlapping features of JS, primarily skeletal manifestation.

PMID: 24736735; In a cohort of 55 families, hypoplastic cerebellum was found in 2 patients but without the characteristic molar tooth sign. There appears to be overlapping JS features including limb and craniofacial abnormalities
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee changed review comment from: Weak evidence supporting gene as causative of JS.


PMID: 21258341; Davis 2011; Reported het variants in 3 JBTS patients however one of the missense variants, M1186V, present in gnomAD (10 hets) and multiple MKS patients. T231S in one MKS patient present in gnomAD 280 hets and 2 hom.; to: Weak evidence supporting gene as causative of JS.

PMID: 21258341; Davis 2011; Reported het variants in 3 JBTS patients however one of the missense variants, M1186V, present in gnomAD (10 hets) and multiple MKS patients. T231S in one MKS patient present in gnomAD 280 hets and 2 hom.
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: 21258341; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee Deleted their review
Joubert syndrome and other neurological ciliopathies v0.62 TTC21B Crystle Lee reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: 25492405, 21258341; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.61 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.61 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.60 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: AMBER
Joubert syndrome and other neurological ciliopathies v0.60 PDE6D Zornitza Stark commented on gene: PDE6D: Second family reported.
Joubert syndrome and other neurological ciliopathies v0.60 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed publications: 24166846, 30423442
Joubert syndrome and other neurological ciliopathies v0.60 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Joubert syndrome and other neurological ciliopathies v0.60 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.60 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.60 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.59 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Joubert syndrome and other neurological ciliopathies v0.59 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.59 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from Orofaciodigital syndrome type IX; Senior-Loken syndrome to Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome
Joubert syndrome and other neurological ciliopathies v0.58 SCLT1 Zornitza Stark Classified gene: SCLT1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.58 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.57 SCLT1 Zornitza Stark reviewed gene: SCLT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.57 POC1B Zornitza Stark Marked gene: POC1B as ready
Joubert syndrome and other neurological ciliopathies v0.57 POC1B Zornitza Stark Added comment: Comment when marking as ready: Mostly ocular phenotype consistent with ciliopathy, insufficient reports to support association with JS/brain phenotypes.
Joubert syndrome and other neurological ciliopathies v0.57 POC1B Zornitza Stark Gene: poc1b has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.57 POC1B Zornitza Stark Classified gene: POC1B as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.57 POC1B Zornitza Stark Gene: poc1b has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.56 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Joubert syndrome and other neurological ciliopathies v0.56 KIAA0753 Zornitza Stark Added comment: Comment when marking as ready: Sufficient number of families with neurological features consistent with ciliopathy/JS.
Joubert syndrome and other neurological ciliopathies v0.56 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.56 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.56 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.55 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Joubert syndrome and other neurological ciliopathies v0.55 VPS13B Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.55 VPS13B Zornitza Stark Classified gene: VPS13B as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.55 VPS13B Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.54 TMEM107 Zornitza Stark Phenotypes for gene: TMEM107 were changed from Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563) to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29, MIM# 617562
Joubert syndrome and other neurological ciliopathies v0.53 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Joubert syndrome and other neurological ciliopathies v0.53 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.53 TMEM107 Zornitza Stark Classified gene: TMEM107 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.53 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.52 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Joubert syndrome and other neurological ciliopathies v0.52 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.52 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.52 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.51 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Joubert syndrome and other neurological ciliopathies v0.51 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.51 TXNDC15 Zornitza Stark Classified gene: TXNDC15 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.51 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.50 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Joubert syndrome and other neurological ciliopathies v0.50 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.50 C2CD3 Zornitza Stark Classified gene: C2CD3 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.50 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.49 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Joubert syndrome and other neurological ciliopathies v0.49 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.49 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.49 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.48 SCLT1 Elena Savva gene: SCLT1 was added
gene: SCLT1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to PMID: 24285566; 32253632; 30425282
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Review for gene: SCLT1 was set to AMBER
Added comment: PMID: 24285566 - 1 patient with a homozygous splice variant, proven to result in a fs and NMD protein. MRI results show agenesis of corpus callosum and pachygyria - no mention of cerebellar hypoplasia or MTS. Additional features include coloboma and cleft lip/palate

PMID: 32253632 - 2 unrelated patients with Bardet-Biedl syndrome. Both patients were chet for the same variants (missense), one found to have splice consequences. Neither patient had polydactyly, but both had ID and renal dysfunction.

PMID: 30425282 - 1 patient (chet splice/splice) with Senior Løken syndrome. Patient had renal dysfunction, mild ID but no MRI performed. Authors suggest biallelic null LOF variants are more severe.

Summary: no JS patients but a clear relationship to similar ciliopathies. Potentially needs adding to the BBS gene list.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.48 POC1B Elena Savva gene: POC1B was added
gene: POC1B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1B were set to PMID: 25044745; 31390656; 25018096
Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20 615973
Review for gene: POC1B was set to RED
Added comment: PMID: 25044745 - 1 homozygous family (missense) with leber congenital amaurosis, JS and polycystic kidney disease. 13 healthy relatives were wildtype or heterozygous carriers only.
MRI shows MTS, cerebellar vermis hypoplasia and malorientated cerebellar peduncles.
Null zebrafish model had cystic kidney and retinal degeneration - no mention of JS features.

PMID: 31390656 - 7 families (8 patients) either chet (PTC/missense) or homozygous (missense) with retinopathies. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability

PMID: 25018096 - 1 homozygous family (missense) with cone rod dystrophy. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability

Summary: single example of JS, doesnt seem to correlate with a particular genotype
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.48 KIAA0753 Elena Savva gene: KIAA0753 was added
gene: KIAA0753 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to PMID: 31816441; 28220259; 29138412; 26643951
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV 617127; Joubert syndrome
Review for gene: KIAA0753 was set to GREEN
Added comment: PMID: 31816441 - 1 patient with a homozygous PTC. No MTS on MRI at 8 months old, clearly stated by authors. Patient had a skeletal dysplasia. Authors summerize reports, no obvious genotype-phenotype correlation.

PMID: 28220259 - 2 chet (missense/inframe del) siblings with JS. Both siblings showed the MTS on MRI, one also had additional hypoplasia of cerebellar vermis. Functional studies on patient cells demonstrated significantly less cilia.

PMID: 29138412 - All patients had brachydactyly.
Patient 1 and 2 (cousins) - showed MTS on MRI, inferior vermis dysplasia. Patients had a homozygous PTC.
Patient 3 - no MTS, but described as having brain features consistent with JS.
Patient 4 - vermis dysplasia, no mention of MTS. Not regarded as having JS, diagnosed with short-rib thoracic dyplasia. Patient was chet for two PTCs.
Zebrafish null models have skeletal abnormalities, no mention of brain analysis/abnormalities

PMID: 26643951 - 1 chet patient (PTC/splice causing fs) with OFD syndrome. MRI shows MTS and vermis hypoplasia
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.48 VPS13B Crystle Lee gene: VPS13B was added
gene: VPS13B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome (MIM# 216550)
Review for gene: VPS13B was set to AMBER
Added comment: Well reported to cause Cohen syndrome. Amber for this gene panel due to phenotypic overlap although not strictly a cilipoathy.
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.48 TMEM107 Crystle Lee gene: TMEM107 was added
gene: TMEM107 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to 26595381; 26123494
Phenotypes for gene: TMEM107 were set to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563)
Review for gene: TMEM107 was set to AMBER
Added comment: Minimal reports to date. Left as amber for now pending additional reports. Bordeline amber/green

PMID: 26595381; Lambacher 2016: Reported hom (OFDVI female twins) and chet variants (JBTS male) in 2 families. All possesed JBTS-associated molar tooth sign

PMID: 26123494; Shaheen 2015: Same hom splice variant reported in 2 apparently unrelated families (counted as 1). Anaylsis of patient fibroblasts shows ciliogenesis defect.
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.48 HYLS1 Elena Savva gene: HYLS1 was added
gene: HYLS1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYLS1 were set to PMID: 26830932
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome 236680
Review for gene: HYLS1 was set to AMBER
Added comment: OMIM notes Dandy Walker anomaly as a neurological feature. All patients results in either stillbirths or neonatal death, so limited information available. Almost all patients have the same recurring missense (p.Asp211Gly)

PMID: 18648327 - describes many patients with the recurring missense mutation. Summary table describes brain features of 19 patients, none appear to be consistent with JS

PMID: 26830932 - 2 homozygous living siblings (stop-loss, extension) both diagnosed with JS. Patients had molar tooth signs and dysplasia of cerebellar vermis

Single reported family, but likely due to a unique mutational spectrum separate from the recurring missense
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.48 TXNDC15 Crystle Lee gene: TXNDC15 was added
gene: TXNDC15 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNDC15 were set to 30851085; 27894351
Phenotypes for gene: TXNDC15 were set to Meckel-Gruber syndrome
Review for gene: TXNDC15 was set to GREEN
Added comment: No OMIM number. Total of 4 families reported with supporting functional studies in ciliogenesis defects. Emerging MKS gene.

PMID: 30851085; Ridnoi 2019: Chet variants identified in a prenatally diagnosed case of Meckel-Gruber syndrome.

PMID: 27894351; Shaheen 2016: Reported 3 diff hom variants in 3 consang families with Meckel-Gruber syndrome.Functional studies performed showing defects in ciliogenesis
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.48 C2CD3 Elena Savva gene: C2CD3 was added
gene: C2CD3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD3 were set to PMID: 24997988
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948
Review for gene: C2CD3 was set to GREEN
Added comment: Molar tooth sign (MTS) a listed phenotype in OMIM

PMID: 24997988 - 1 patient with a homozygous PTC. MRI showed MTS

PMID: 30097616 -
1 chet (two splice) patient with MTS, polydactyly. Sibling also had polydactyly, mild cerebellar hypoplasia and grey matter heterotopia.
1 chet (two missense) patient with MTS, was noted to have a diagnosis of Joubert syndrome
Summary Table 3 reviews previous reports, and notes 6/12 cases also had MTS.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.48 KIAA0586 Elena Savva gene: KIAA0586 was added
gene: KIAA0586 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to PMID: 26096313
Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23 616490; Short-rib thoracic dysplasia 14 with polydactyly 616546
Review for gene: KIAA0586 was set to GREEN
Added comment: PMID: 26096313 - 9 unrelated families with Joubert syndrome. MRI shows the molar tooth sign in 3/3 scanned patients. Patients tended to have biallelic PTCs, though missense also reported. p.Arg143Lysfs*4 appears to be a recurring mutation, seen in patients either as a homozygote or in chet with another unique mutation in 7/9 families. Interestingly these 7 families were of different ethnicity
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Classified gene: CCDC28B as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.48 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.47 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 32139166
Phenotypes for gene: CCDC28B were set to Joubert syndrome
Review for gene: CCDC28B was set to AMBER
Added comment: PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Classified gene: ARMC9 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.46 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.45 ARMC9 Zornitza Stark gene: ARMC9 was added
gene: ARMC9 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, MIM# 617622
Review for gene: ARMC9 was set to GREEN
Added comment: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Marked gene: ARMC8 as ready
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Classified gene: ARMC8 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.44 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.43 ARMC8 Zornitza Stark reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.43 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Joubert syndrome and other neurological ciliopathies v0.43 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.43 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185; Hydrocephalus, congenital, 3, with brain anomalies 617967
Joubert syndrome and other neurological ciliopathies v0.42 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Joubert syndrome and other neurological ciliopathies v0.41 WDR81 Zornitza Stark Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.40 WDR81 Zornitza Stark Classified gene: WDR81 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.40 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.39 WDR81 Zornitza Stark reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: None; Publications: 28556411, 21885617; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185, Hydrocephalus, congenital, 3, with brain anomalies 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.39 ARMC8 Elena Savva reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.39 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Joubert syndrome and other neurological ciliopathies v0.39 WNT1 Zornitza Stark Gene: wnt1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.39 WNT1 Zornitza Stark Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV (MIM#615220)
Joubert syndrome and other neurological ciliopathies v0.38 WNT1 Zornitza Stark Publications for gene: WNT1 were set to
Joubert syndrome and other neurological ciliopathies v0.37 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.36 NID1 Zornitza Stark Marked gene: NID1 as ready
Joubert syndrome and other neurological ciliopathies v0.36 NID1 Zornitza Stark Gene: nid1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.36 NID1 Zornitza Stark Phenotypes for gene: NID1 were changed from to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Joubert syndrome and other neurological ciliopathies v0.35 NID1 Zornitza Stark Publications for gene: NID1 were set to
Joubert syndrome and other neurological ciliopathies v0.34 NID1 Zornitza Stark Mode of inheritance for gene: NID1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.33 ZIC4 Zornitza Stark Marked gene: ZIC4 as ready
Joubert syndrome and other neurological ciliopathies v0.33 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.33 ZIC4 Zornitza Stark Publications for gene: ZIC4 were set to
Joubert syndrome and other neurological ciliopathies v0.32 ZIC4 Zornitza Stark Classified gene: ZIC4 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.32 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.31 NID1 Zornitza Stark Classified gene: NID1 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.31 NID1 Zornitza Stark Gene: nid1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.30 NID1 Zornitza Stark reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23674478, 25558065, 12480912, 30773799; Phenotypes: Dandy-Walker malformation and occipital cephalocele, Hydrocephalus with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.30 Zornitza Stark Panel name changed from Joubert syndrome and other cerebellar malformations to Joubert syndrome and other neurological ciliopathies
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Joubert syndrome and other neurological ciliopathies v0.29 ZIC1 Zornitza Stark Marked gene: ZIC1 as ready
Joubert syndrome and other neurological ciliopathies v0.29 ZIC1 Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.29 ZIC1 Zornitza Stark Phenotypes for gene: ZIC1 were changed from to Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)
Joubert syndrome and other neurological ciliopathies v0.28 ZIC1 Zornitza Stark Mode of pathogenicity for gene: ZIC1 was changed from Other to Other
Joubert syndrome and other neurological ciliopathies v0.27 ZIC1 Zornitza Stark Mode of pathogenicity for gene: ZIC1 was changed from to Other
Joubert syndrome and other neurological ciliopathies v0.27 ZIC1 Zornitza Stark Publications for gene: ZIC1 were set to
Joubert syndrome and other neurological ciliopathies v0.26 ZIC1 Zornitza Stark Mode of inheritance for gene: ZIC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.25 ZIC1 Zornitza Stark Classified gene: ZIC1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.25 ZIC1 Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.24 ZIC1 Zornitza Stark reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.24 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Joubert syndrome and other neurological ciliopathies v0.24 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.24 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Joubert syndrome and other neurological ciliopathies v0.23 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.22 VLDLR Zornitza Stark Classified gene: VLDLR as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.22 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.21 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.21 WNT1 Zornitza Stark Classified gene: WNT1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.21 WNT1 Zornitza Stark Gene: wnt1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.20 WNT1 Zornitza Stark reviewed gene: WNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.20 WNT1 Crystle Lee reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26671912, 23499309, 23434763; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red

PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee Deleted their comment
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee commented on gene: ZIC1: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee edited their review of gene: ZIC1: Changed publications: 26340333, 9412507, 14981711
Joubert syndrome and other neurological ciliopathies v0.20 ZIC1 Crystle Lee reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 26340333, 9412507; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Joubert syndrome and other neurological ciliopathies v0.20 ZIC4 Crystle Lee reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Joubert syndrome and other neurological ciliopathies v0.20 SUFU Zornitza Stark Marked gene: SUFU as ready
Joubert syndrome and other neurological ciliopathies v0.20 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.20 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, MIM#617757
Joubert syndrome and other neurological ciliopathies v0.19 SUFU Zornitza Stark Publications for gene: SUFU were set to
Joubert syndrome and other neurological ciliopathies v0.18 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.17 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.17 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.16 SUFU Zornitza Stark reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 28965847; Phenotypes: Joubert syndrome 32, MIM#617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.15 PIBF1 Zornitza Stark gene: PIBF1 was added
gene: PIBF1 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 7 families altogether: 3 of these are Hutterite and share the same founder variant.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Classified gene: CEP104 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.13 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781
Review for gene: CEP104 was set to GREEN
Added comment: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.11 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Joubert syndrome and other cerebellar malformations. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.10 Zornitza Stark Panel name changed from Joubert syndrome and other cerebellar malformations_VCGS to Joubert syndrome and other cerebellar malformations
Panel types changed to Victorian Clinical Genetics Services
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Classified gene: FOXC1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.8 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.8 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Joubert syndrome and other neurological ciliopathies v0.7 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.7 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Joubert syndrome and other neurological ciliopathies v0.4 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Joubert syndrome and other neurological ciliopathies v0.3 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.2 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.2 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.1 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.1 LAMC1 Zornitza Stark Marked gene: LAMC1 as ready
Joubert syndrome and other neurological ciliopathies v0.1 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.1 LAMC1 Zornitza Stark Classified gene: LAMC1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.1 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.0 LAMC1 Zornitza Stark reviewed gene: LAMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.0 ZIC4 Zornitza Stark gene: ZIC4 was added
gene: ZIC4 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC4 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 ZIC1 Zornitza Stark gene: ZIC1 was added
gene: ZIC1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR81 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VLDLR was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM67 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM237 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM231 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM216 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM138 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN3 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN2 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUFU was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 PDE6D Zornitza Stark gene: PDE6D was added
gene: PDE6D was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDE6D was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP3 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 NID1 Zornitza Stark gene: NID1 was added
gene: NID1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NID1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MKS1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 LAMC1 Zornitza Stark gene: LAMC1 was added
gene: LAMC1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMC1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF7 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INPP5E was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSPP1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C5orf42 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP41 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP290 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CC2D2A was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B9D2 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B9D1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 ARMC8 Zornitza Stark gene: ARMC8 was added
gene: ARMC8 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC8 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL13B was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AHI1 was set to Unknown
Joubert syndrome and other neurological ciliopathies v0.0 Zornitza Stark Added panel Joubert syndrome and other cerebellar malformations_VCGS