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{
"count": 220488,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1534",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1532",
"results": [
{
"created": "2020-10-18T17:34:39.207784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB27A were changed from to Griscelli syndrome, type 2, MIM# 607624",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:34:20.849101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB27A were set to ",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:33:55.387727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB27A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:33:38.004152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835631, 10704277, 19030707, 15163896, 12058346, 10859366; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:22:50.318349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF2 as ready",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:22:50.307719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf2 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:22:37.486375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, MIM# 612518",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:22:06.678362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAAF2 were set to ",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:21:39.834599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:21:21.536058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19052621, 32638265, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10, MIM# 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:20:23.118135+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF2 as ready",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:20:23.109288+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf2 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:20:16.250176+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, MIM# 612518",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:19:47.922095+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAAF2 were set to ",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:19:20.563624+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:18:53.229442+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19052621, 32638265, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10, MIM# 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:09:21.401246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R13L as ready",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:09:21.390796+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5004",
"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": "2020-10-18T17:09:11.007996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R13L as Green List (high evidence)",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:09:10.996916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5004",
"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": "2020-10-18T17:08:52.381252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R13L was added\ngene: PPP1R13L was added to Mendeliome. Sources: Expert list\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\nReview for gene: PPP1R13L was set to GREEN\nAdded comment: Four families reported in PMID 28864777, but same homozygous variant, identity by descent. Five unrelated families reported in PMID 32666529. Severe progressive DCM with onset in infancy. \nSources: Expert list",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:07:23.531728+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R13L as ready",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:07:23.520990+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.26",
"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": "2020-10-18T17:07:20.743295+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R13L were changed from cardio-cutaneous syndrome; sudden cardiac death to Dilated cardiomyopathy, onset in infancy",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:07:08.022637+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1R13L were set to 25691752; 19016676; 28069640; 15661756; 28864777",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:06:49.131212+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:00:33.263882+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDLIM3 as ready",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:00:33.256758+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdlim3 has been classified as Red List (Low Evidence).",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:00:28.285350+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDLIM3 were changed from to Hypertrophic cardiomyopathy",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-10-18T17:00:13.565055+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDLIM3 were set to 25163546",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-10-18T16:59:00.374903+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDLIM3 as Red List (low evidence)",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-10-18T16:59:00.364370+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdlim3 has been classified as Red List (Low Evidence).",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-10-18T16:58:50.156039+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: None; Publications: 30681346, 26455666, 20801532; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-10-18T15:59:45.539554+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF1 as ready",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T15:59:45.528865+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf1 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T15:59:36.915570+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, MIM# 613193",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T15:59:09.518869+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAAF1 were set to ",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T15:58:34.923872+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T15:58:07.155616+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944400, 19944405, 32502479, 29228333, 27261005; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:33:05.302858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCNO as ready",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:33:05.292130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccno has been classified as Green List (High Evidence).",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:32:58.693414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCNO were changed from to Ciliary dyskinesia, primary, 29, MIM# 615872",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:32:41.004328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCNO were set to ",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:32:23.725863+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCNO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:32:00.522061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747639, 31765523, 28801648; Phenotypes: Ciliary dyskinesia, primary, 29, MIM# 615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:31:08.579063+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCNO as ready",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:31:08.568318+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccno has been classified as Green List (High Evidence).",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:31:06.068811+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCNO were changed from to Ciliary dyskinesia, primary, 29, MIM# 615872",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:30:33.049164+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCNO were set to ",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:30:05.367524+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCNO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:29:37.123878+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747639, 31765523, 28801648; Phenotypes: Ciliary dyskinesia, primary, 29, MIM# 615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:24:45.284304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSNK1G1 as ready",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:24:45.274062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1g1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:24:36.291389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSNK1G1 as Green List (high evidence)",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:24:36.280513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1g1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:22:42.035982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSNK1G1 was added\ngene: CSNK1G1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK1G1 were set to 33009664\nPhenotypes for gene: CSNK1G1 were set to Global developmental delay; Intellectual disability; Autism; Seizures\nReview for gene: CSNK1G1 was set to GREEN\nAdded comment: Borderline Green/Amber rating.\r\n\r\nGold et al (2020 - PMID: 33009664) report 5 individuals with CSNK1G1 variants, including updated information on a previously reported subject (Martin et al 2014 - PMID: 24463883).\r\n\r\nFeatures included DD (5/5) with associated expressive language delay, ASD (in at least 3/5), seizures (2/5), dysmorphic facial features (4/5 arched eyebrows, 3/5 prominent central incisors, 2/5 epicanthus) and limb anomalies (2/5 - proximally placed thumb, 5th f. clinodactyly, asymmetric overgrowth - the other individual had tapering fingers). GI problems were observed in 4/5. Two individuals had macrocephaly and one had microcephaly. There was no formal developmental assessment although ID might be implied in at least 3 individuals (p1: 20y - single words/regression in walking following a seizure episode, p2: 8y - first words at 5y, assistance to feed, dress and bathe, ASD, p4: 13y - regression, assistance to feed and dress).\r\n\r\nCSNK1G1 encodes the gamma-1 isoform of casein kinase 1, a protein involved in growth and cell morphogenesis. The gene has ubiquitous expression, incl. brain. As commented, in brain it regulates phosphorylation of NMDA receptors, playing a role in synaptic transmission (4 articles cited).\r\n\r\nOne individual had a 1.2 kb deletion spanning exon 3 of CSNK1G1 [chr15:64550952-64552120 - GRCh37]. Parental samples were unavailable for this individual. Four individuals were found to harbor de novo CSNK1G1 variants [NM_022048.3: c.688C>T - p.(Arg230Trp) dn | c.1255C>T - p.(Gln419*) dn | c.1214+5G>A dn with in silico predictions in favor of splice disruption | c.419C>T - p.(Thr140Met) dn].\r\n\r\nArg230Trp is however present once in gnomAD. The stopgain variant is located in the last exon and predicted to skip NMD. \r\n\r\nThere were no variant studies performed.\r\n\r\nThe Drosophila gish gene encodes a CK1γ homolog with preferential expression in the mushroom body. Heterozygous and homozygous mutants exhibit impairment in memory retention, more severe in homozygous flies. gish was also identified as a seizure modifier in a fly epilepsy model (heterozygous para mt flies). \nSources: Literature",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:19:55.266253+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSNK1G1 as ready",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:19:55.261796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Borderline Green/Amber rating.",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:19:55.225789+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1g1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:19:41.223746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSNK1G1 as Green List (high evidence)",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T13:19:41.214987+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1g1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:41:53.716906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB2 as ready",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:41:53.709145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Green List (High Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:41:45.901029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB2 were changed from to {Lipodystrophy, partial, acquired, susceptibility to} 608709; Congenital microcephaly, Intellectual disability",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:41:27.288740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNB2 were set to ",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:41:07.825202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:40:49.085508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826530, 22768673, 33033404; Phenotypes: {Lipodystrophy, partial, acquired, susceptibility to} 608709, Congenital microcephaly, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:37:19.116478+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB2 as ready",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:37:19.105496+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:37:16.416332+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB2 were changed from to {Lipodystrophy, partial, acquired, susceptibility to} 608709",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:36:49.578447+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNB2 were set to ",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:36:22.804575+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:35:57.804765+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Amber List (moderate evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:35:57.794122+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:35:30.252228+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16826530, 22768673; Phenotypes: {Lipodystrophy, partial, acquired, susceptibility to} 608709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:28:29.961873+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB2 as ready",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:28:29.953692+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Green List (High Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:28:24.195278+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Green List (high evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:28:24.183371+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Green List (High Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:27:11.712640+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB2 as ready",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:27:11.700911+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Green List (High Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:27:06.746734+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Green List (high evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T12:27:06.735982+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Green List (High Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-18T10:54:36.305976+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Adult-onset neurodegenerative condition, not truly ID.; to: Adult-onset neurodegenerative condition, not truly ID. Associated with CNV of this gene, suggestive of haploinsufficiency.",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-18T10:53:16.719861+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNB1 were set to 32910914",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-18T10:51:52.883931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNB1 were set to 32910914; 16951681; 19151023",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-18T10:51:29.689437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMNB1: Added comment: Additional study PMID 33033404 reporting 7 individuals with recurrent missense variants in this gene and ID/microcephaly phenotype.; Changed publications: 32910914, 16951681, 19151023, 33033404",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-18T10:43:21.921802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "changed review comment from: Gold et al (2020 - PMID: 33009664) report 5 individuals with CSNK1G1 variants, including updated information on a previously reported subject (Martin et al 2014 - PMID: 24463883).\r\n\r\nFeatures included DD (5/5) with associated expressive language delay, ASD (in at least 3/5), seizures (2/5), dysmorphic facial features (4/5 arched eyebrows, 3/5 prominent central incisors, 2/5 epicanthus) and limb anomalies (2/5 - proximally placed thumb, 5th f. clinodactyly, asymmetric overgrowth - the other individual had tapering fingers). GI problems were observed in 4/5. Two individuals had macrocephaly and one had microcephaly. There was no formal developmental assessment although ID might be implied in at least 3 individuals (p1: 20y - single words/regression in walking following a seizure episode, p2: 8y - first words at 5y, assistance to feed, dress and bathe, ASD, p4: 13y - regression, assistance to feed and dress).\r\n\r\nCSNK1G1 encodes the gamma-1 isoform of casein kinase 1, a protein involved in growth and cell morphogenesis. The gene has ubiquitous expression, incl. brain. As commented, in brain it regulates phosphorylation of NMDA receptors, playing a role in synaptic transmission (4 articles cited).\r\n\r\nOne individual had a 1.2 kb deletion spanning exon 3 of CSNK1G1 [chr15:64550952-64552120 - GRCh37]. Parental samples were unavailable for this individual. Four individuals were found to harbor de novo CSNK1G1 variants [NM_022048.3: c.688C>T - p.(Arg230Trp) dn | c.1255C>T - p.(Gln419*) dn | c.1214+5G>A dn with in silico predictions in favor of splice disruption | c.419C>T - p.(Thr140Met) dn].\r\n\r\nArg230Trp is however present once in gnomAD. The stopgain variant is located in the last exon and predicted to skip NMD. \r\n\r\nThere were no variant studies performed.\r\n\r\nThe Drosophila gish gene encodes a CK1γ homolog with preferential expression in the mushroom body. Heterozygous and homozygous mutants exhibit impairment in memory retention, more severe in homozygous flies. gish was also identified as a seizure modifier in a fly epilepsy model (heterozygous para mt flies).\r\n\r\nThe authors also speculate that impaired transduction of LRP6 (and WNT signaling) might be implicated.\r\n\r\nFinally the authors discuss the phenotype of individuals in Decipher one of whom (327861) harbors a frameshift variant and presenting ID, epilepsy and progressive spasticity. [NB. Inheritance of this variant is not specified, while this individual has a further inherited SCN2A missense SNV]. Two further Decipher cases with microdeletions spanning CSNK1G1 (and additional variants) are also discussed. \r\n\r\nOverall, this gene can be considered for inclusion with probably amber rating. \r\nSources: Literature; to: Gold et al (2020 - PMID: 33009664) report 5 individuals with CSNK1G1 variants, including updated information on a previously reported subject (Martin et al 2014 - PMID: 24463883).\r\n\r\nFeatures included DD (5/5) with associated expressive language delay, ASD (in at least 3/5), seizures (2/5), dysmorphic facial features (4/5 arched eyebrows, 3/5 prominent central incisors, 2/5 epicanthus) and limb anomalies (2/5 - proximally placed thumb, 5th f. clinodactyly, asymmetric overgrowth - the other individual had tapering fingers). GI problems were observed in 4/5. Two individuals had macrocephaly and one had microcephaly. There was no formal developmental assessment although ID might be implied in at least 3 individuals (p1: 20y - single words/regression in walking following a seizure episode, p2: 8y - first words at 5y, assistance to feed, dress and bathe, ASD, p4: 13y - regression, assistance to feed and dress).\r\n\r\nCSNK1G1 encodes the gamma-1 isoform of casein kinase 1, a protein involved in growth and cell morphogenesis. The gene has ubiquitous expression, incl. brain. As commented, in brain it regulates phosphorylation of NMDA receptors, playing a role in synaptic transmission (4 articles cited).\r\n\r\nOne individual had a 1.2 kb deletion spanning exon 3 of CSNK1G1 [chr15:64550952-64552120 - GRCh37]. Parental samples were unavailable for this individual. Four individuals were found to harbor de novo CSNK1G1 variants [NM_022048.3: c.688C>T - p.(Arg230Trp) dn | c.1255C>T - p.(Gln419*) dn | c.1214+5G>A dn with in silico predictions in favor of splice disruption | c.419C>T - p.(Thr140Met) dn].\r\n\r\nArg230Trp is however present once in gnomAD. The stopgain variant is located in the last exon and predicted to skip NMD. \r\n\r\nThere were no variant studies performed.\r\n\r\nThe Drosophila gish gene encodes a CK1γ homolog with preferential expression in the mushroom body. Heterozygous and homozygous mutants exhibit impairment in memory retention, more severe in homozygous flies. gish was also identified as a seizure modifier in a fly epilepsy model (heterozygous para mt flies).\r\n\r\nThe authors also speculate that impaired transduction of LRP6 (and WNT signaling) might be implicated.\r\n\r\nFinally the authors discuss the phenotype of individuals in Decipher one of whom (327861) harbors a frameshift variant and presented ID, epilepsy and progressive spasticity. [NB. Inheritance of this variant is not specified, while this individual has a further inherited SCN2A missense SNV]. Two further Decipher cases with microdeletions spanning CSNK1G1 (and additional variants) are also discussed. \r\n\r\nOverall, this gene can be considered for inclusion with probably amber rating. \r\nSources: Literature",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T10:41:36.614897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "changed review comment from: Gold et al (2020 - PMID: 33009664) report 5 individuals with CSNK1G1 variants, including updated information on a previously reported subject (Martin et al 2014 - PMID: 24463883).\r\n\r\nFeatures included DD (5/5) with associated expressive language delay, ASD (in at least 3/5), seizures (2/5), dysmorphic facial features (4/5 arched eyebrows, 3/5 prominent central incisors, 2/5 epicanthus) and limb anomalies (2/5 - proximally placed thumb, 5th f. clinodactyly, asymmetric overgrowth - the other individual had tapering fingers). GI problems were observed in 4/5. Two individuals had macrocephaly and one had microcephaly. There was no formal developmental assessment although ID might be implied in at least 3 individuals (p1: 20y - single words/regression in walking following a seizure episode, p2: 8y - first words at 5y, assistance to feed, dress and bathe, ASD, p4: 13y - regression, assistance to feed and dress).\r\n\r\nCSNK1G1 encodes the gamma-1 isoform of casein kinase 1, a protein involved in growth and cell morphogenesis. The gene has ubiquitous expression, incl. brain. As commented, in brain it regulates phosphorylation of NMDA receptors, playing a role in synaptic transmission (4 articles cited).\r\n\r\nOne individual had a 1.2 kb deletion spanning exon 3 of CSNK1G1 [chr15:64550952-64552120 - GRCh37]. Parental samples were unavailable for this individual. Four individuals were found to harbor de novo CSNK1G1 variants [NM_022048.3: c.688C>T - p.(Arg230Trp) dn | c.1255C>T - p.(Gln419*) dn | c.1214+5G>A dn with in silico predictions in favor of splice disruption | c.419C>T - p.(Thr140Met) dn].\r\n\r\nArg230Trp is however present once in gnomAD. The stopgain variant is located in the last exon and predicted to skip NMD. \r\n\r\nThere were no variant studies performed.\r\n\r\nThe Drosophila gish gene encodes a CK1γ homolog with preferential expression in the mushroom body. Heterozygous and homozygous mutants exhibit impairment in memory retention, more severe in homozygous flies. gish was also identified as a seizure modifier in a fly epilepsy model (heterozygous para mt flies).\r\n\r\nThe authors also speculate that impaired transduction of LRP6 (and WNT signaling) might be implicated.\r\n\r\nFinally the authors discuss the phenotype of individuals in Decipher one of whom (327861) harbors a frameshift variant and presenting ID, epilepsy and progressive spasticity. [NB. Inheritance of this variant is not specified, while this individual has a further inherited SCN2A missense SNV]. Two further Decipher cases with microdeletions spanning CSNK1G1 (and additional variants) also discussed. \r\n\r\nOverall, this gene can be considered for inclusion with probably amber rating. \nSources: Literature; to: Gold et al (2020 - PMID: 33009664) report 5 individuals with CSNK1G1 variants, including updated information on a previously reported subject (Martin et al 2014 - PMID: 24463883).\r\n\r\nFeatures included DD (5/5) with associated expressive language delay, ASD (in at least 3/5), seizures (2/5), dysmorphic facial features (4/5 arched eyebrows, 3/5 prominent central incisors, 2/5 epicanthus) and limb anomalies (2/5 - proximally placed thumb, 5th f. clinodactyly, asymmetric overgrowth - the other individual had tapering fingers). GI problems were observed in 4/5. Two individuals had macrocephaly and one had microcephaly. There was no formal developmental assessment although ID might be implied in at least 3 individuals (p1: 20y - single words/regression in walking following a seizure episode, p2: 8y - first words at 5y, assistance to feed, dress and bathe, ASD, p4: 13y - regression, assistance to feed and dress).\r\n\r\nCSNK1G1 encodes the gamma-1 isoform of casein kinase 1, a protein involved in growth and cell morphogenesis. The gene has ubiquitous expression, incl. brain. As commented, in brain it regulates phosphorylation of NMDA receptors, playing a role in synaptic transmission (4 articles cited).\r\n\r\nOne individual had a 1.2 kb deletion spanning exon 3 of CSNK1G1 [chr15:64550952-64552120 - GRCh37]. Parental samples were unavailable for this individual. Four individuals were found to harbor de novo CSNK1G1 variants [NM_022048.3: c.688C>T - p.(Arg230Trp) dn | c.1255C>T - p.(Gln419*) dn | c.1214+5G>A dn with in silico predictions in favor of splice disruption | c.419C>T - p.(Thr140Met) dn].\r\n\r\nArg230Trp is however present once in gnomAD. The stopgain variant is located in the last exon and predicted to skip NMD. \r\n\r\nThere were no variant studies performed.\r\n\r\nThe Drosophila gish gene encodes a CK1γ homolog with preferential expression in the mushroom body. Heterozygous and homozygous mutants exhibit impairment in memory retention, more severe in homozygous flies. gish was also identified as a seizure modifier in a fly epilepsy model (heterozygous para mt flies).\r\n\r\nThe authors also speculate that impaired transduction of LRP6 (and WNT signaling) might be implicated.\r\n\r\nFinally the authors discuss the phenotype of individuals in Decipher one of whom (327861) harbors a frameshift variant and presenting ID, epilepsy and progressive spasticity. [NB. Inheritance of this variant is not specified, while this individual has a further inherited SCN2A missense SNV]. Two further Decipher cases with microdeletions spanning CSNK1G1 (and additional variants) are also discussed. \r\n\r\nOverall, this gene can be considered for inclusion with probably amber rating. \r\nSources: Literature",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T10:39:17.981380+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: CSNK1G1 was added\ngene: CSNK1G1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CSNK1G1 were set to 33009664\nPhenotypes for gene: CSNK1G1 were set to Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of the face; Abnromality of limbs\nPenetrance for gene: CSNK1G1 were set to unknown\nReview for gene: CSNK1G1 was set to AMBER\nAdded comment: Gold et al (2020 - PMID: 33009664) report 5 individuals with CSNK1G1 variants, including updated information on a previously reported subject (Martin et al 2014 - PMID: 24463883).\r\n\r\nFeatures included DD (5/5) with associated expressive language delay, ASD (in at least 3/5), seizures (2/5), dysmorphic facial features (4/5 arched eyebrows, 3/5 prominent central incisors, 2/5 epicanthus) and limb anomalies (2/5 - proximally placed thumb, 5th f. clinodactyly, asymmetric overgrowth - the other individual had tapering fingers). GI problems were observed in 4/5. Two individuals had macrocephaly and one had microcephaly. There was no formal developmental assessment although ID might be implied in at least 3 individuals (p1: 20y - single words/regression in walking following a seizure episode, p2: 8y - first words at 5y, assistance to feed, dress and bathe, ASD, p4: 13y - regression, assistance to feed and dress).\r\n\r\nCSNK1G1 encodes the gamma-1 isoform of casein kinase 1, a protein involved in growth and cell morphogenesis. The gene has ubiquitous expression, incl. brain. As commented, in brain it regulates phosphorylation of NMDA receptors, playing a role in synaptic transmission (4 articles cited).\r\n\r\nOne individual had a 1.2 kb deletion spanning exon 3 of CSNK1G1 [chr15:64550952-64552120 - GRCh37]. Parental samples were unavailable for this individual. Four individuals were found to harbor de novo CSNK1G1 variants [NM_022048.3: c.688C>T - p.(Arg230Trp) dn | c.1255C>T - p.(Gln419*) dn | c.1214+5G>A dn with in silico predictions in favor of splice disruption | c.419C>T - p.(Thr140Met) dn].\r\n\r\nArg230Trp is however present once in gnomAD. The stopgain variant is located in the last exon and predicted to skip NMD. \r\n\r\nThere were no variant studies performed.\r\n\r\nThe Drosophila gish gene encodes a CK1γ homolog with preferential expression in the mushroom body. Heterozygous and homozygous mutants exhibit impairment in memory retention, more severe in homozygous flies. gish was also identified as a seizure modifier in a fly epilepsy model (heterozygous para mt flies).\r\n\r\nThe authors also speculate that impaired transduction of LRP6 (and WNT signaling) might be implicated.\r\n\r\nFinally the authors discuss the phenotype of individuals in Decipher one of whom (327861) harbors a frameshift variant and presenting ID, epilepsy and progressive spasticity. [NB. Inheritance of this variant is not specified, while this individual has a further inherited SCN2A missense SNV]. Two further Decipher cases with microdeletions spanning CSNK1G1 (and additional variants) also discussed. \r\n\r\nOverall, this gene can be considered for inclusion with probably amber rating. \nSources: Literature",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2020-10-18T09:57:02.330680+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNB1 were set to 32910914",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:58:06.278248+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREBF1 as ready",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:58:06.270050+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf1 has been classified as Green List (High Evidence).",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:58:01.411430+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREBF1 as Green List (high evidence)",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:58:01.400341+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf1 has been classified as Green List (High Evidence).",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:57:33.581196+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREBF1 was added\ngene: SREBF1 was added to Cataract. Sources: Expert Review\nMode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SREBF1 were set to 31790666; 32902915\nPhenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310\nReview for gene: SREBF1 was set to GREEN\nAdded comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses. \nSources: Expert Review",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:52:50.909811+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREBF1 as ready",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:52:50.896584+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf1 has been classified as Green List (High Evidence).",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:52:46.043116+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREBF1 as Green List (high evidence)",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:52:46.035770+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf1 has been classified as Green List (High Evidence).",
"entity_name": "SREBF1",
"entity_type": "gene"
}
]
}