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Prepair 1000+ v1.2135 TRAPPC6B Seb Lunke Classified gene: TRAPPC6B as Green List (high evidence)
Prepair 1000+ v1.2135 TRAPPC6B Seb Lunke Gene: trappc6b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2133 TRAPPC6B Seb Lunke Tag for review was removed from gene: TRAPPC6B.
Prepair 1000+ v1.1808 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Prepair 1000+ v1.1808 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, 300352 (3) to Cerebral creatine deficiency syndrome 1, MIM#300352
Prepair 1000+ v1.1751 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from Hyperekplexia 3, 614618 (3) to Hyperekplexia 3 MIM#614618
Prepair 1000+ v1.1749 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Phenotypes for gene: ORC6 were changed from Meier-Gorlin syndrome 3, 613803 (3) to Meier-Gorlin syndrome 3 MIM#613803
Prepair 1000+ v1.1695 ORC6 Zornitza Stark Publications for gene: ORC6 were set to
Prepair 1000+ v1.1595 DNAJC6 Lilian Downie Marked gene: DNAJC6 as ready
Prepair 1000+ v1.1595 DNAJC6 Lilian Downie Gene: dnajc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1595 DNAJC6 Lilian Downie Publications for gene: DNAJC6 were set to
Prepair 1000+ v1.1568 DNAJC6 Karina Sandoval reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33983693, 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC6A8 Cassandra Muller reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326334, 11898126, 15154114, 17101918, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352 (3); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1562 TRAPPC6B Zornitza Stark Tag for review tag was added to gene: TRAPPC6B.
Prepair 1000+ v1.1456 TRAPPC6B Michelle Torres reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MIM#617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 ORC6 Michelle Torres reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3 MIM#613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B, 133540 (3) to Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506
Prepair 1000+ v1.844 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Prepair 1000+ v1.843 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.674 LRRC6 Lilian Downie Marked gene: LRRC6 as ready
Prepair 1000+ v1.674 LRRC6 Lilian Downie Gene: lrrc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.674 LRRC6 Lilian Downie Marked gene: LRRC6 as ready
Prepair 1000+ v1.674 LRRC6 Lilian Downie Gene: lrrc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.674 LRRC6 Lilian Downie Publications for gene: LRRC6 were set to
Prepair 1000+ v1.633 LRRC6 Marta Cifuentes Ochoa reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122589, 23891469, 32622824, 29511670, 38934611, 33577779, 39004944, 31624012; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935, MONDO:0013979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Marked gene: SLC6A3 as ready
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Gene: slc6a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Publications for gene: SLC6A3 were set to
Prepair 1000+ v1.322 SLC6A3 Andrew Coventry reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253 19478460; Phenotypes: Parkinsonism-dystonia, infantile, 1 MIM#613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ABCC6 Lauren Thomas reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.249 GPC6 Lilian Downie Marked gene: GPC6 as ready
Prepair 1000+ v1.249 GPC6 Lilian Downie Gene: gpc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.249 GPC6 Lilian Downie Publications for gene: GPC6 were set to
Prepair 1000+ v1.248 GPC6 Andrew Coventry reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194 32655339 37353964; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Marked gene: ERCC6L2 as ready
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Gene: ercc6l2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Publications for gene: ERCC6L2 were set to
Prepair 1000+ v1.76 ERCC6L2 Lucy Spencer reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37696499, 29987015; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 SLC6A8 Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 (3) for gene: SLC6A8
Prepair 1000+ v1.3 SLC6A5 Seb Lunke Added phenotypes Hyperekplexia 3, 614618 (3) for gene: SLC6A5
Prepair 1000+ v1.3 ERCC6 Seb Lunke Added phenotypes Cockayne syndrome, type B, 133540 (3) for gene: ERCC6
Prepair 1000+ v0.101 C6 Zornitza Stark Marked gene: C6 as ready
Prepair 1000+ v0.101 C6 Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.101 C6 Zornitza Stark Publications for gene: C6 were set to
Prepair 1000+ v0.100 C6 Zornitza Stark Classified gene: C6 as Red List (low evidence)
Prepair 1000+ v0.100 C6 Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.99 C6 Zornitza Stark Tag for review was removed from gene: C6.
Prepair 1000+ v0.99 C6 Zornitza Stark reviewed gene: C6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 C6 Zornitza Stark Tag for review tag was added to gene: C6.
Prepair 1000+ v0.58 C6 Crystle Lee reviewed gene: C6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31440263, 23537992, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC6B were set to 28397838; 28626029; 31687267
Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Prepair 1000+ v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473
Prepair 1000+ v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
Prepair 1000+ v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
Prepair 1000+ v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)
Prepair 1000+ v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)
Prepair 1000+ v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)
Prepair 1000+ v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)
Prepair 1000+ v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)
Prepair 1000+ v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
Prepair 1000+ v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)
Prepair 1000+ v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C6 were set to C6 deficiency, 612446 (3)