HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1774",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1772",
"results": [
{
"created": "2020-06-04T20:31:39.968107+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYGM were set to 32386344",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:31:19.577642+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYGM were set to ",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:30:49.391835+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:29:32.737623+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32386344; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:08:34.573527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PERP as ready",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:08:34.562971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: perp has been classified as Amber List (Moderate Evidence).",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:08:18.670820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PERP as Amber List (moderate evidence)",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:08:18.662538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: perp has been classified as Amber List (Moderate Evidence).",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:07:08.717828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PERP was added\ngene: PERP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PERP were set to 31898316\nPhenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet\nReview for gene: PERP was set to AMBER\nAdded comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible. \nSources: Literature",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:05:18.732652+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PERP as ready",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:05:18.726954+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: One family and a mouse model, upgrade to Amber.",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:05:18.684354+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: perp has been classified as Amber List (Moderate Evidence).",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:05:15.753648+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PERP as Amber List (moderate evidence)",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:05:15.740703+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: perp has been classified as Amber List (Moderate Evidence).",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:03:58.189108+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:03:58.179210+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Amber List (Moderate Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:03:54.810636+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA were changed from to {Lewy body dementia, susceptibility to} (MIM# 127750)",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:03:31.631545+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBA were set to ",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:03:07.307026+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBA was changed from Unknown to Other",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:02:44.150467+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GBA as Amber List (moderate evidence)",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:02:44.138051+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Amber List (Moderate Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:02:09.232693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY6 as ready",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:02:09.223657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy6 has been classified as Green List (High Evidence).",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:01:57.207468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY6 as Green List (high evidence)",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T19:01:57.197243+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy6 has been classified as Green List (High Evidence).",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T18:56:20.203275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADCY6 was added\ngene: ADCY6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADCY6 were set to 24319099; 26257172; 31846058\nPhenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM # 616287\nReview for gene: ADCY6 was set to GREEN\nAdded comment: Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies. \nSources: Literature",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T18:51:53.083799+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY6 as ready",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T18:51:53.069582+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy6 has been classified as Green List (High Evidence).",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T13:09:07.382501+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23588557, 32439597, 31010158; Phenotypes: {Lewy body dementia, susceptibility to} (MIM# 127750); Mode of inheritance: Other",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-06-04T13:00:01.243687+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY6 were changed from ?Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:57:17.462571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSCR3 as ready",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:57:17.453894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dscr3 has been classified as Red List (Low Evidence).",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:56:40.203606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSCR3 was added\ngene: DSCR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DSCR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DSCR3 were set to 31845315\nPhenotypes for gene: DSCR3 were set to Intellectual disability, no OMIM # yet\nReview for gene: DSCR3 was set to RED\nAdded comment: 1 family/2 cousins with cognitive impairment, growth failure, skeletal abnormalities, and distinctive facial features. Both shared the homozygous nonsense variant c.178G>T (p.Glu60*) in the VPS26C gene. This gene encodes VPS26C, a member of the retriever integral membrane protein recycling pathway. The nature of the variant which is predicted to result in loss‐of‐function, expression studies revealing significant reduction in the mutant transcript, and the co‐segregation of the homozygous variant with the phenotype in two affected individuals. \nSources: Literature",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:54:46.911421+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSCR3 as ready",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:54:46.903039+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dscr3 has been classified as Red List (Low Evidence).",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:50:50.251148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEF1 as ready",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:50:50.242485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lef1 has been classified as Red List (Low Evidence).",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:50:34.584950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEF1 was added\ngene: LEF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEF1 were set to 32022899\nPhenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet\nReview for gene: LEF1 was set to RED\nAdded comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. \nSources: Literature",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:48:24.537063+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEF1 as ready",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:48:24.526244+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lef1 has been classified as Red List (Low Evidence).",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:44:24.714035+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEF1 as ready",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:44:24.702249+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lef1 has been classified as Red List (Low Evidence).",
"entity_name": "LEF1",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:42:15.198811+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PERP was added\ngene: PERP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PERP were set to PMID: 31898316\nPhenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet\nReview for gene: PERP was set to RED\nAdded comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. \r\n\r\nA previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible. \nSources: Literature",
"entity_name": "PERP",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:41:12.548844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD7A as ready",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:41:12.538077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud7a has been classified as Red List (Low Evidence).",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:40:21.196810+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Epileptic encephalopathy, intellectual disability, no OMIM# yet",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:39:41.839410+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD7A were set to PMID: 31997314",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:38:51.269825+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTUD7A: Rating: RED; Mode of pathogenicity: None; Publications: 29395075, 29395074; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:38:05.890954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Epileptic encephalopathy, intellectual disability, no OMIM# yet",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:37:41.804984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD7A were set to 31997314",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:37:07.095200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD7A: Changed publications: 31997314, 29395075, 29395074",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:35:26.783083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTUD7A was added\ngene: OTUD7A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OTUD7A were set to 31997314\nPhenotypes for gene: OTUD7A were set to Epileptic encephalopathy, no OMIM# yet\nReview for gene: OTUD7A was set to RED\nAdded comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. \nSources: Literature",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:33:24.704449+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD7A as ready",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:33:24.692237+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud7a has been classified as Red List (Low Evidence).",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:32:48.512573+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD7A as ready",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:32:48.500629+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud7a has been classified as Red List (Low Evidence).",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:31:01.071111+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATAD2B as ready",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:31:01.061459+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2b has been classified as Green List (High Evidence).",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:30:49.840291+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATAD2B were changed from to Mental retardation, autosomal dominant 18, OMIM # 615074",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:30:15.600961+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATAD2B were set to ",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:29:38.604039+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATAD2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:28:38.008707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATAD2B as ready",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:28:37.999687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2b has been classified as Green List (High Evidence).",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:28:14.368372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATAD2B were changed from to Mental retardation, autosomal dominant 18, OMIM # 615074",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:27:35.601651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATAD2B were set to ",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:27:09.806493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATAD2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:26:40.296898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949314; Phenotypes: Mental retardation, autosomal dominant 18, OMIM # 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:25:31.455238+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATAD2B as ready",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:25:31.446280+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2b has been classified as Green List (High Evidence).",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:21:19.873573+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:21:19.861927+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:21:11.384173+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:20:50.407424+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:20:39.825217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:19:49.667953+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:19:21.533841+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:16:31.153106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:16:31.143966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:16:17.849905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:14:20.318230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2D were set to ",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:13:41.199952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:13:03.909983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949313; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:10:44.974793+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:09:56.954420+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2D were set to ",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:09:34.777008+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29861108; Phenotypes: Mental retardation, autosomal dominant 57 MIM#618050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:09:12.291168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:08:29.645489+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:03:25.116795+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG4 as ready",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:03:25.107437+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Green List (High Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:03:22.109690+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 to Saul-Wilson syndrome, OMIM #618150",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:01:32.909567+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:01:12.020473+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T12:00:45.651084+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG4 were set to ",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T11:59:48.685145+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T11:59:12.125242+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T11:58:36.371435+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949312, 30290151, 19494034, 21185756; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T11:56:39.169963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG4 as ready",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T11:56:39.159009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Green List (High Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T11:56:27.846844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-06-04T11:56:05.790387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG4 were set to ",
"entity_name": "COG4",
"entity_type": "gene"
}
]
}