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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1832",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1830",
"results": [
{
"created": "2020-04-20T15:28:38.318899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:28:12.536594+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:28:12.523446+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Green List (High Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:27:55.728028+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:27:27.840878+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OFD1 were set to ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:27:05.512340+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1R were set to 31586944",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:26:44.688188+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1R were set to ",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:26:38.175817+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:26:24.318456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: UBE3A as ready",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:26:24.308057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Green List (High Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:25:47.285699+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YARS as ready",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:25:47.272180+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yars has been classified as Green List (High Evidence).",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:25:34.780335+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:24:28.527512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: C9orf72",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:23:02.702013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:22:57.797273+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YARS as Green List (high evidence)",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:22:57.788015+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yars has been classified as Green List (High Evidence).",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:22:21.136483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YARS was added\ngene: YARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YARS were set to 30304524; 29232904; 27633801\nPhenotypes for gene: YARS were set to Intellectual disability; deafness; nystagmus; liver dysfunction\nReview for gene: YARS was set to GREEN\nAdded comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features. \nSources: Literature",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:21:45.503467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ADAMTS19 as ready",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:21:45.490006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: adamts19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:21:35.806500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ADAMTS19 as Amber List (moderate evidence)",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:21:35.800224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two different homozygous variants in two consanguineous families. Animal model demonstrates cardiac phenotype\r\nAwait further reported families",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:21:35.753575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2416",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: adamts19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:19:22.513204+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2538",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:18:56.878509+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:18:29.568591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YARS as ready",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:18:29.555352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yars has been classified as Green List (High Evidence).",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:18:12.172604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YARS were changed from to Charcot-Marie-Tooth disease, dominant intermediate C\t608323; Bi-allelic variants: ID, deafness, nystagmus",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:16:35.473051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YARS were set to ",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:15:59.015358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:15:01.973270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP65 as ready",
"entity_name": "CFAP65",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:15:01.957292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap65 has been classified as Green List (High Evidence).",
"entity_name": "CFAP65",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:14:45.170297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP65 as Green List (high evidence)",
"entity_name": "CFAP65",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:14:45.156983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap65 has been classified as Green List (High Evidence).",
"entity_name": "CFAP65",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:13:51.881139+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:13:40.054781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2411",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CAP2 as ready",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:13:40.046025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2411",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cap2 has been classified as Red List (Low Evidence).",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:13:23.681429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2411",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CAP2 as Red List (low evidence)",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:13:23.675125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2411",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Currently only one consanguineous family reported. \r\nKnockout mouse model shows cardiomyopathy but not other clinical features reported in this family",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:13:23.595945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2411",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cap2 has been classified as Red List (Low Evidence).",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:13:08.325785+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to, MIM# 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:11:27.203298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1R as ready",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:11:27.189946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:11:15.260053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:10:58.834863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1R were set to ",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:10:37.753373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:09:13.510218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:09:13.500548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:09:03.958086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome\t606232; Rett syndrome; Rett-like phenotypes",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:08:55.220803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2406",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:08:24.820411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to ",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:08:02.796065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:07:01.695648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:07:01.686330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:06:51.060680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:06:25.853513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN1A were set to ",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:05:56.877319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:05:47.691998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2401",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS19: Changed rating: AMBER",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:05:40.288501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2401",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892). \nSources: Literature; to: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892). \r\nSources: Literature",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:05:14.667792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2401",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "edited their review of gene: CPSF1: Changed phenotypes: Myopia 27, 618827, high myopia, early-onset high myopia, high myopia",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:05:02.428430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2401",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: CPSF1 was added\ngene: CPSF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CPSF1 were set to 30689892\nPhenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia\nReview for gene: CPSF1 was set to GREEN\nAdded comment: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892). \nSources: Literature",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:04:52.225189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP1 as ready",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:04:52.216451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Green List (High Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:04:42.858843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4\t612164; Rett syndrome; Rett-like phenotypes",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:04:08.696541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP1 were set to ",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:02:42.321845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:02:09.922407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA10 as ready",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:02:09.908896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Green List (High Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:01:59.729079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1\t309800",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:01:37.556524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA10 were set to ",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-04-20T15:00:59.190178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:59:39.369029+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RXFP2 as ready",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:59:39.355589+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rxfp2 has been classified as Red List (Low Evidence).",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:59:34.210367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2395",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31474763; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:59:18.468897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:59:18.455222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:59:10.817614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2395",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: PMID: 31511340:\r\n- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.\r\n- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS); to: PMID: 31511340:\r\n- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.\r\n- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS)",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:59:07.430418+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.3",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32040565; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:57:59.128103+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.657",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:56:35.899296+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.339",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ABCC1 was added\ngene: ABCC1 was added to Deafness. Sources: Expert Review\nMode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ABCC1 were set to 31273342\nPhenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss (PMID: 31273342)\nReview for gene: ABCC1 was set to GREEN\nAdded comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected)\r\n\r\nPMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual\r\nADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. \nSources: Expert Review",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:56:29.800331+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RXFP2 were changed from to Cryptorchidism",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:56:14.445417+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKDCC as ready",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:56:14.436145+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkdcc has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:55:55.698852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5\t300894; Rett syndrome; Rett-like phenotypes",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:55:33.318476+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOD2 as ready",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:55:33.309490+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod2 has been classified as Red List (Low Evidence).",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:55:16.352328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR45 were set to ",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:54:44.637307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR45 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:54:35.287120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2392",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992121, 21714819, 24623842, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:52:33.587479+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOD2 was added\ngene: SOD2 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: SOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOD2 were set to 31494578\nPhenotypes for gene: SOD2 were set to Lethal neonatal dilated cardiomyopathy\nReview for gene: SOD2 was set to RED\nAdded comment: Single patient from a consanguineous family, with functional evidence (reduced total SOD activity in patient cells, lenti-rescue experiment restored mitochondrial SOD (SOD2) activity). (PMID: 31494578) \nSources: Literature",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:52:29.133125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2392",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: ?Amyotrophic lateral sclerosis 16, juvenile 614373, ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726, distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:51:59.169426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2392",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:51:13.749991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2392",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GNAI2 was added\ngene: GNAI2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GNAI2 were set to PMID: 31036916\nPhenotypes for gene: GNAI2 were set to Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic\t192605; Syndromic developmental disorder\nReview for gene: GNAI2 was set to AMBER\nAdded comment: Papers associating this gene to tachycardia are very old (pre 2000, OMIM).\r\n\r\nPMID: 31036916 - a single de novo patient with syndromic developmental disorder\r\n\r\nSummary: AMBER - one report, may be a coincidental de novo finding \nSources: Literature",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:51:05.138128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOD2 were changed from {Microvascular complications of diabetes 6} 612634 to {Microvascular complications of diabetes 6} 612634; Lethal neonatal dilated cardiomyopathy",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:50:43.818284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOD2 were set to ",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:50:18.187960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:48:05.602854+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.20",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: KLHL24 was added\ngene: KLHL24 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KLHL24 were set to 27798626; 27889062; 30715372\nPhenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy\nReview for gene: KLHL24 was set to GREEN\nAdded comment: Heterozygous variants in the start codon, resulting in the use of alternate downstream methionine at residue 29, have previously been reported in multiple patients with AD EBS. These variants have been shown to cause a gain of function, resulting in enhanced protein stability and higher abundance (OMIM).\r\n\r\nRecent report of recessive KLHL24 variants in 2 unrelated consanguineous families (total of 7 sequenced affected individuals) with HCM (1 nonsense, 1 missense). A knockdown model of klhl24a in zebrafish recapitulated the cardiac phenotype, supporting loss of function as the mechanism in AR HCM (PMID: 30715372). \nSources: Literature",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:47:58.158973+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RXFP2 were set to ",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:47:25.499678+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCC1 as ready",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T14:47:25.490707+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
}
]
}