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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1788",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1786",
"results": [
{
"created": "2020-05-25T17:18:35.289314+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH8 were set to ",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:17:25.298831+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:14:22.431839+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXJ1 as ready",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:14:22.422249+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Green List (High Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:14:18.677515+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXJ1 as Green List (high evidence)",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:14:18.666268+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Green List (High Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:11:34.383387+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB1 as ready",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:11:34.377651+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Not a PCD, but overlapping clinical features.",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:11:34.335615+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:11:31.458910+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFKB1 as Amber List (moderate evidence)",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:11:31.446402+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:10:37.058616+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB2 as ready",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:10:37.054393+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Not a PCD, but can have overlapping presenting features.",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:10:37.022641+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:10:19.102970+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFKB2 as Amber List (moderate evidence)",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:10:19.093848+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:09:17.094220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NME8 as ready",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:09:17.081898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Red List (Low Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:09:08.797046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:08:35.803307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NME8 were set to ",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:07:57.207286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:07:37.361106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NME8 as Red List (low evidence)",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:07:37.347583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Red List (Low Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:07:00.726231+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NME8 as ready",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:07:00.716102+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Red List (Low Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:06:58.036042+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:06:26.839051+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NME8 were set to ",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:05:56.698129+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:05:29.272832+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NME8 as Red List (low evidence)",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:05:29.263908+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Red List (Low Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:04:28.627095+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NME8 as ready",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:04:28.614812+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Red List (Low Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:04:24.923863+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:03:51.696085+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NME8 were set to ",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:03:22.102207+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:02:54.221091+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NME8 as Red List (low evidence)",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:02:54.209778+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Red List (Low Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:02:39.979496+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM231 as ready",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:02:39.957872+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem231 has been classified as Green List (High Evidence).",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:02:36.971422+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM231 as Green List (high evidence)",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:02:36.958160+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem231 has been classified as Green List (High Evidence).",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:02:23.979244+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM231 was added\ngene: TMEM231 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM231 were set to 23012439; 27449316\nPhenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970\nReview for gene: TMEM231 was set to GREEN\nAdded comment: Three unrelated families reported with retinopathy as a feature of the condition. \nSources: Expert list",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:01:45.212373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2A as ready",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:01:45.198456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2a has been classified as Green List (High Evidence).",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:01:28.321462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM 113620",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:01:08.855601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFAP2A were set to ",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:00:48.477501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TFAP2A was changed from to Other",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-05-25T17:00:30.427582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:59:41.439102+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CD as ready",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:59:41.435057+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Include as overlapping phenotype.",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:59:41.403352+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:59:38.429698+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CD as Amber List (moderate evidence)",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:59:38.417998+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:58:29.255734+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:58:29.249759+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Can cause bronchiectasis with limited immunological findings, include as an overlapping phenotype on this panel.",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:58:29.206523+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:58:09.253578+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3R1 as Amber List (moderate evidence)",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:58:09.241088+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:57:11.209963+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3R1 as Red List (low evidence)",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:57:11.200899+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:54:55.290592+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VIPAS39 as ready",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:54:55.278464+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vipas39 has been classified as Green List (High Evidence).",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:54:52.403370+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:54:23.131183+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VIPAS39 were set to ",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:53:55.602056+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:52:46.248405+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH6 as ready",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:52:46.229991+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:52:42.458210+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Amber List (moderate evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:52:42.449374+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:51:51.082037+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH6 as ready",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:51:51.067966+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:51:40.889941+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:51:01.370056+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Amber List (moderate evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:51:01.360892+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:50:32.963551+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 26918822; Phenotypes: Heterotaxy, male infertility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:47:33.273045+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM107 as ready",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:47:33.260269+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem107 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:47:28.736100+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM107 as Amber List (moderate evidence)",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:47:28.726849+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem107 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:47:12.170914+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM107 was added\ngene: TMEM107 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM107 were set to 26595381\nPhenotypes for gene: TMEM107 were set to Joubert syndrome 29 MIM#617562; Orofaciodigital syndrome XVI MIM#617563\nReview for gene: TMEM107 was set to AMBER\nAdded comment: A set of twins and an unrelated case reported with retinopathy as a feature of the condition. \nSources: Expert list",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:47:11.905440+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BMPR1B as Amber List (moderate evidence)",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:47:11.892852+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:46:00.996536+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:46:00.986549+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:45:55.719784+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFTR were changed from Disseminated bronchiectasis to Cystic fibrosis; bronchiectasis",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:45:18.413762+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFTR as Green List (high evidence)",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:45:18.404972+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:44:28.178848+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.21",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.; to: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants or start-loss variant. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:39:57.278218+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP54 as ready",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:39:57.268964+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap54 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:39:02.794182+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP54 as Red List (low evidence)",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:39:02.785474+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap54 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:37:00.848719+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.21",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:35:12.772482+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP53 as ready",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:35:12.759970+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Green List (High Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:35:07.599365+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP53 as Green List (high evidence)",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:35:07.589600+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Green List (High Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:26:26.302583+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG1 as ready",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:26:26.294145+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2020-05-25T16:26:23.152395+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854",
"entity_name": "ADGRG1",
"entity_type": "gene"
}
]
}