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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1293",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1291",
"results": [
{
"created": "2021-06-17T16:39:43.731230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFS1 were set to 24498631",
"entity_name": "NFS1",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:39:19.277375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NFS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 52, MIM#619386, Complex II/III deficiency, multisystem organ failure",
"entity_name": "NFS1",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:38:28.048354+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:37:59.940759+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:36:47.607110+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:36:16.036844+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJC30: Changed phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:35:49.112282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:35:30.622849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJC30: Changed phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:34:21.404495+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYL9 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:33:37.635634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYL9 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:33:18.830616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYL9: Changed phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:33:02.071446+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYL9: Changed phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:20:38.505783+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARCN1 as ready",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:20:38.493868+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Green List (High Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:18:19.149074+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARCN1 were changed from to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:17:50.560991+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to ",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:17:21.102339+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:16:47.924456+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476655, 33154040; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:16:47.252919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARCN1 were changed from to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:16:29.842339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to ",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:16:11.030014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:15:49.364599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476655, 33154040; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:09:05.901473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBEAL2 as ready",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:09:05.891946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbeal2 has been classified as Green List (High Evidence).",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:08:57.534294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBEAL2 were changed from to Gray platelet syndrome, MIM# 139090",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:06:27.844902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBEAL2 were set to ",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:06:00.028240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:05:34.802808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21765412, 21765411, 21765413; Phenotypes: Gray platelet syndrome, MIM# 139090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:04:50.613992+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBEAL2 as ready",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:04:50.604142+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbeal2 has been classified as Green List (High Evidence).",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:01:17.516850+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBEAL2 were changed from to Gray platelet syndrome, MIM# 139090",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:00:33.742740+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBEAL2 were set to ",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T20:00:14.572526+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:59:04.154243+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFI1 as ready",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:59:04.143574+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfi1 has been classified as Green List (High Evidence).",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:59:00.934570+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:58:38.365757+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFI1 were set to ",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:58:01.425998+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:57:10.096956+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:56:34.285894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFI1 as ready",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:56:34.275394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfi1 has been classified as Green List (High Evidence).",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:56:25.660314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:56:06.284757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFI1 were set to ",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:55:44.367766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:55:25.715332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:54:36.241880+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFI1 as ready",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:54:36.231277+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfi1 has been classified as Green List (High Evidence).",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:54:33.894383+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:54:10.741435+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFI1 were set to ",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:53:53.335521+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:53:17.533754+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:49:20.649297+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R13L as ready",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:49:20.639624+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r13l has been classified as Green List (High Evidence).",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:49:04.648243+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R13L as Green List (high evidence)",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:49:04.634984+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r13l has been classified as Green List (High Evidence).",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:48:53.922206+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R13L was added\ngene: PPP1R13L was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R13L were set to 32666529; 28864777\nPhenotypes for gene: PPP1R13L were set to Dilated cardiomyopathy, onset in infancy; Cleft lip and palate\nReview for gene: PPP1R13L was set to GREEN\nAdded comment: At least 6 unrelated families. NMD-predicted, missense and stop-loss (extension) variants have been reported in individuals with autosomal recessive PPP1R13L-related syndrome. Patients described with biallelic pathogenic variants in PPP1R13L all had severe infantile-onset dilated cardiomyopathy, with additional features including cleft lip and palate, wedge-shaped teeth, and sparse, dry, woolly hair described in several individuals. Death due to HF progression before 5yo reported in cases that didn't receive a heart transplant. Cognitive delay also reported in two unrelated individuals (PMID: 28069640, PMID: 32666529). \nSources: Expert Review",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:46:22.205553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:46:22.193707+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:46:18.132811+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC13A5 were changed from to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:45:44.465887+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A5 were set to ",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:45:15.884463+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:44:42.715357+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905, MONDO:0014392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:43:59.758859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:43:59.741378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:43:50.684775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC13A5 were changed from to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:43:30.458820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A5 were set to ",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:43:11.554134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:42:53.833348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905, MONDO:0014392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:40:59.984347+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:40:59.968828+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:40:51.784818+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A5 were set to ",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:40:23.983351+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC13A5 were changed from to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T19:39:56.387384+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T12:48:34.718723+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.92",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28069640, 32666529; Phenotypes: PPP1R13L-related syndrome, Dilated cardiomyopathy (severe infantile-onset); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2021-06-16T11:32:19.194164+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24858907, 26502894; Phenotypes: Amelogenesis imperfecta, type IF MIM#616270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMBN",
"entity_type": "gene"
},
{
"created": "2021-06-16T11:04:06.215052+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GPR68: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27693231, 32279993; Phenotypes: Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:59:38.415109+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1117",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:59:32.245963+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:56:50.863048+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22424600, 29153277, 25565929; Phenotypes: Kohlschutter-Tonz syndrome MIM #226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:52:33.987613+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: ACP4: Changed rating: GREEN",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:46:03.746446+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FAM83H: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 19407157; Phenotypes: Amelogenesis imperfecta, type IIIA MIM#130900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:43:46.356676+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: ACP4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 27843125, 33552707; Phenotypes: Amelogenesis imperfecta, type IJ MIM#617297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:40:15.892526+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17924334, 25928877, 24026952; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:32:54.856569+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30082715; Phenotypes: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2021-06-16T10:17:56.805621+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20A",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:26:39.061710+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:26:39.049538+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:26:14.197871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:26:14.188269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:24:41.847501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA2 were changed from to Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:24:16.253767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA2 were set to ",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:23:51.860321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:23:30.213643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21670465, 21242295, 21892158; Phenotypes: Immunodeficiency 21, MIM# 614172, GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982, Emberger syndrome, MIM# 614038, Deafness-lymphoedema-leukaemia syndrome MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:23:16.186768+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA2 were changed from to Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:20:02.731069+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA2 were set to ",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:19:33.198783+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:19:01.240813+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA2: Changed phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:18:01.273192+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.\r\n\r\nBone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.\r\n\r\nLess common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'.\r\n\r\nOver 20 unrelated individuals reported.; to: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.\r\n\r\nBone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.\r\n\r\nLess common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'.\r\n\r\nOver 20 unrelated individuals reported.",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:17:51.579329+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21670465, 21242295, 21892158; Phenotypes: Immunodeficiency 21, MIM# 614172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:07:07.209746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
}
]
}