Activity

Filter

Cancel
Date Panel Item Activity
68 actions
Tubulinopathies v1.2 TTL Bryony Thompson Marked gene: TTL as ready
Tubulinopathies v1.2 TTL Bryony Thompson Gene: ttl has been classified as Amber List (Moderate Evidence).
Tubulinopathies v1.2 TTL Bryony Thompson Classified gene: TTL as Amber List (moderate evidence)
Tubulinopathies v1.2 TTL Bryony Thompson Gene: ttl has been classified as Amber List (Moderate Evidence).
Tubulinopathies v1.2 TTL Bryony Thompson Classified gene: TTL as Amber List (moderate evidence)
Tubulinopathies v1.2 TTL Bryony Thompson Gene: ttl has been classified as Amber List (Moderate Evidence).
Tubulinopathies v1.1 TTL Mark Cleghorn gene: TTL was added
gene: TTL was added to Tubulinopathies. Sources: Other
Mode of inheritance for gene: TTL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTL were set to complex neurodevelopmental disorder MONDO:0100038
Penetrance for gene: TTL were set to unknown
Review for gene: TTL was set to AMBER
Added comment: TTL
Valentina Serpieri, University of Pavia
ESHG talk 1/6/24

FAM1 (Italy)
2 affected sisters born to consanguineous Pakistani parents
GDD, spastic tetraparesis, optic atrophy, brain anomalies resembling tubulinopathies (dysplasia of corpus callosum, basal ganglia, brainstem)
WES: homozygous TTL:c.1013G>A; p.Cys338Tyr in both affected sisters

Via genematcher
5 more families (9 individuals) w similar phenotypes and biallelic variants in TTL

FAM2 (Egypt): homozygous p.Arg46Pro
FAM3 (Egypt): homozygous p.Arg46Pro
FAM4 (Australia): homozygous p.Gln183Arg
FAM5 (France): homozygous p.Trp147*
FAM6 (Saudi Arabia): homozygous p.His243Tyr

TTL KO mice: death soon after birth, no overt malformations, but defects in organisation of cerebral layers

Functional work on patient fibroblasts
FAM1 – reduced quantity of TTL protein compared to control on Western blot, decreased function of TTL protein (increase in detyrosinated tubulin) compared to controls – infer LoF as mechanism
FAM3 – mentioned but no details
FAM4– mentioned but no details
Sources: Other
Tubulinopathies v1.1 Zornitza Stark HPO terms changed from to Abnormal cortical gyration, HP:0002536
List of related panels changed from to Abnormal cortical gyration; HP:0002536
Tubulinopathies v1.0 Zornitza Stark promoted panel to version 1.0
Tubulinopathies v0.28 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Tubulinopathies v0.28 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Tubulinopathies v0.28 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Tubulinopathies v0.27 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Tubulinopathies v0.26 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBG1 Zornitza Stark reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Tubulinopathies v0.25 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Tubulinopathies v0.25 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Tubulinopathies v0.24 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Tubulinopathies v0.23 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Tubulinopathies v0.22 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Tubulinopathies v0.22 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Tubulinopathies v0.21 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Tubulinopathies v0.20 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB Zornitza Stark Marked gene: TUBB as ready
Tubulinopathies v0.19 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Tubulinopathies v0.19 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Tubulinopathies v0.18 TUBB Zornitza Stark Publications for gene: TUBB were set to
Tubulinopathies v0.17 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.15 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17218254, 17584854, 18728072; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.14 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Red List (Low Evidence).
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)
Tubulinopathies v0.12 TUBGCP4 Zornitza Stark Publications for gene: TUBGCP4 were set to
Tubulinopathies v0.11 TUBGCP4 Zornitza Stark Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.10 TUBGCP4 Zornitza Stark Classified gene: TUBGCP4 as Red List (low evidence)
Tubulinopathies v0.10 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Red List (Low Evidence).
Tubulinopathies v0.9 TUBGCP4 Paul De Fazio reviewed gene: TUBGCP4: Rating: RED; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Tubulinopathies v0.9 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Tubulinopathies v0.9 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Tubulinopathies v0.9 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763
Tubulinopathies v0.8 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Tubulinopathies v0.7 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.6 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.6 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Tubulinopathies v0.6 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Tubulinopathies v0.6 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Tubulinopathies v0.5 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Tubulinopathies v0.4 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.3 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Tubulinopathies v0.3 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Tubulinopathies v0.2 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.1 Sebastian Lunke Panel name changed from Tubulinopathies_AustralianGenomics_VCGS to Tubulinopathies
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services
Tubulinopathies v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBGCP4 was set to Unknown
Tubulinopathies v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBG1 was set to Unknown
Tubulinopathies v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to Unknown
Tubulinopathies v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB2B was set to Unknown
Tubulinopathies v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB2A was set to Unknown
Tubulinopathies v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB was set to Unknown
Tubulinopathies v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBA8 was set to Unknown
Tubulinopathies v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBA1A was set to Unknown
Tubulinopathies v0.0 Zornitza Stark Added panel Tubulinopathies_AustralianGenomics_VCGS