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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1581",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1579",
"results": [
{
"created": "2020-09-20T16:42:29.151806+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMHD1 were changed from Aicardi Goutieres syndrome 5 to Aicardi Goutieres syndrome 5, MIM# 612952",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:42:12.646251+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:35:42.857622+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:35:42.849476+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:35:40.556344+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2B were changed from Aicardi Goutieres syndrome 2 to Aicardi Goutieres syndrome 2, MIM# 610181",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:35:30.721737+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to ",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:35:15.660316+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29691679, 30223285, 29239743, 28762473; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:15:10.854486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMOC2 as ready",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:15:10.842540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smoc2 has been classified as Green List (High Evidence).",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:15:02.700631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMOC2 were changed from to Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:14:47.242870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMOC2 were set to ",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:14:30.220942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMOC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2020-09-20T08:14:11.057837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152679, 23317772, 32908163; Phenotypes: Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2020-09-19T18:08:37.023699+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCYT2 as ready",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-09-19T18:08:37.013703+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Green List (High Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-09-19T18:08:33.079693+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCYT2 as Green List (high evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-09-19T18:08:33.068308+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Green List (High Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-09-19T18:08:23.889461+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCYT2 was added\ngene: PCYT2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy\nReview for gene: PCYT2 was set to GREEN\nAdded comment: Biallelic hypomorph variants in 5 affected cases from 4 families with complicated hereditary spastic paraplegia, onset between 2 and 16 years of age. Zebrafish model similar to previous HSP zebrafish models. \nSources: Expert list",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:51:52.802187+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAG as ready",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:51:52.788910+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mag has been classified as Green List (High Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:51:49.288619+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAG as Green List (high evidence)",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:51:49.277724+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mag has been classified as Green List (High Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:51:40.396911+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAG was added\ngene: MAG was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAG were set to 32629324; 32340215\nPhenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, MIM#\t616680; Cerebellar ataxia; Oculomotor apraxia\nReview for gene: MAG was set to GREEN\nAdded comment: At least 5 families reported where ataxia was a prominent feature. \nSources: Literature",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:49:33.172416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAG as ready",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:49:33.159859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mag has been classified as Green List (High Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:49:26.737584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAG were changed from to Spastic paraplegia 75, autosomal recessive, MIM# 616680",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:49:10.079732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAG were set to ",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:48:53.151170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:48:37.121309+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 26179919, 31402626, 32629324; Phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:46:29.786615+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAG as ready",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:46:29.775861+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mag has been classified as Green List (High Evidence).",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:46:26.501596+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAG were set to 31402626; 24482476; 26179919",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:46:10.209465+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 26179919, 31402626, 32629324; Phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAG",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:24:27.382997+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAN as ready",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:24:27.371637+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gan has been classified as Green List (High Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:24:25.127333+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM#\t256850",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:24:15.600892+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAN were set to 26381321",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:24:01.092290+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:18:02.136360+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC3 as ready",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:18:02.125970+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:18:00.062513+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1b to Pontocerebellar hypoplasia, type 1b; Complicated hereditary spastic paraplegia",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:12:59.514421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DSTYK.",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:12:22.338751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSTYK as ready",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:12:22.323402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Green List (High Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:12:14.931698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSTYK were changed from to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:11:53.933702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSTYK were set to ",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:11:37.745325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSTYK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2020-09-19T17:11:18.155452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23862974, 23862974, 28618409, 28157540, 23862974; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805, Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:05:28.504684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYM2 as ready",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:05:28.493953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Green List (High Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:05:19.956476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMYM2 as Green List (high evidence)",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:05:19.947990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Green List (High Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:05:02.772406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMYM2 was added\ngene: ZMYM2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMYM2 were set to 32891193\nPhenotypes for gene: ZMYM2 were set to Congenital anomalies of kidney and urinary tract; Neurodevelopmental disorder\nReview for gene: ZMYM2 was set to GREEN\nAdded comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features.\r\n\r\n--\r\n\r\nConnaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants.\r\n\r\nAffected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.\r\n\r\n14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.\r\n\r\nThe human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT. \r\n\r\nZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body). \r\n\r\nIt has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.\r\n\r\nThe authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT). \nSources: Literature",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:02:53.924017+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZMYM2: Changed rating: GREEN; Changed publications: 32891193; Changed phenotypes: Congenital anomalies of kidney and urinary tract, Neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:02:04.927617+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYM2 as ready",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:02:04.922981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Syndromic CAKUT, variable extra-renal phenotype but sufficient families with ID for Green rating.",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:02:04.885726+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Green List (High Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:01:35.982680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMYM2 as Green List (high evidence)",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:01:35.974238+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Green List (High Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:00:12.846533+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYM2 as ready",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T12:00:12.830914+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Green List (High Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:59:44.627709+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMYM2 as Green List (high evidence)",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:59:44.616668+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Green List (High Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:37:24.811845+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTX2 as ready",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:37:24.801170+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:37:20.847293+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTX2 as Green List (high evidence)",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:37:20.838307+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:36:56.235104+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTX2 was added\ngene: MTX2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification\nReview for gene: MTX2 was set to GREEN\nAdded comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. \nSources: Literature",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:35:24.797149+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTX2 as ready",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:35:24.786197+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:35:20.907563+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTX2 as Green List (high evidence)",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:35:20.899099+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:34:54.525314+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTX2 was added\ngene: MTX2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification\nReview for gene: MTX2 was set to GREEN\nAdded comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. \nSources: Literature",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:33:17.593604+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTX2 as ready",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:33:17.582925+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:33:13.928674+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTX2 as Green List (high evidence)",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:33:13.918529+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:32:47.930829+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTX2 was added\ngene: MTX2 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification\nReview for gene: MTX2 was set to GREEN\nAdded comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. \nSources: Literature",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:31:23.118171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTX2 as ready",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:31:23.107298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:31:13.037159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTX2 as Green List (high evidence)",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:31:13.028478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:30:57.213962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTX2 was added\ngene: MTX2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification\nReview for gene: MTX2 was set to GREEN\nAdded comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. \nSources: Literature",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:21:23.827703+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RREB1 as ready",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:21:23.818123+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Red List (Low Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:21:20.147042+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: RREB1.",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:21:03.721322+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RREB1 was added\ngene: RREB1 was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RREB1 were set to 32938917\nPhenotypes for gene: RREB1 were set to Noonan syndrome-like disorder\nReview for gene: RREB1 was set to RED\nAdded comment: Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes. In summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association. \nSources: Literature",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:19:18.536419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RREB1 as ready",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:19:18.525814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Red List (Low Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:19:08.261337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RREB1 was added\ngene: RREB1 was added to Mendeliome. Sources: Literature\nSV/CNV tags were added to gene: RREB1.\nMode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RREB1 were set to 32938917\nPhenotypes for gene: RREB1 were set to Noonan syndrome-like disorder\nReview for gene: RREB1 was set to RED\nAdded comment: Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes.\r\n\r\nIn summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association. \nSources: Literature",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:09:33.291501+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FNIP1 as ready",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:09:33.283093+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fnip1 has been classified as Green List (High Evidence).",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:09:20.259918+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FNIP1 as Green List (high evidence)",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:09:20.249916+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fnip1 has been classified as Green List (High Evidence).",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:08:52.131344+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FNIP1 was added\ngene: FNIP1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FNIP1 were set to 32181500; 32905580\nPhenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia\nReview for gene: FNIP1 was set to GREEN\nAdded comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.\r\n\r\n- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway. \nSources: Literature",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:07:53.839703+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.68",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: ZMYM2 was added\ngene: ZMYM2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZMYM2 were set to 32891193\nPhenotypes for gene: ZMYM2 were set to Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly\nPenetrance for gene: ZMYM2 were set to unknown\nReview for gene: ZMYM2 was set to GREEN\nAdded comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features. DD and ID were reported in some of the families described to date as summarized below. You might consider inclusion with green/amber rating in the ID panel and green in the panel for CAKUT.\r\n\r\n--\r\n\r\nConnaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants. [Article not reviewed in detail].\r\n\r\nAffected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.\r\n\r\n14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.\r\n\r\nThe human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT. \r\n\r\nZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body). \r\n\r\nIt has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.\r\n\r\nThe authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT). \nSources: Literature",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:07:51.241007+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3013",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: ZMYM2 was added\ngene: ZMYM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZMYM2 were set to 32891193\nPhenotypes for gene: ZMYM2 were set to Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly\nPenetrance for gene: ZMYM2 were set to unknown\nReview for gene: ZMYM2 was set to AMBER\nAdded comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features. DD and ID were reported in some of the families described to date as summarized below. You might consider inclusion with green/amber rating in the ID panel and green in the panel for CAKUT.\r\n\r\n--\r\n\r\nConnaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants. [Article not reviewed in detail].\r\n\r\nAffected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.\r\n\r\n14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.\r\n\r\nThe human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT. \r\n\r\nZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body). \r\n\r\nIt has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.\r\n\r\nThe authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT). \nSources: Literature",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:07:14.277554+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FNIP1 as ready",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:07:14.257767+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fnip1 has been classified as Green List (High Evidence).",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2020-09-19T11:07:09.612619+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FNIP1 as Green List (high evidence)",
"entity_name": "FNIP1",
"entity_type": "gene"
}
]
}