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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=553",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=551",
"results": [
{
"created": "2023-09-04T15:29:21.585397+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:29:16.091785+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia, MIM#208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:28:28.866950+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATM as Amber List (moderate evidence)",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:28:28.844976+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:27:56.708279+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATM: Added comment: Progressive cerebellar dysfunction. Intellectual ability is typically normal. However, learning can be impaired due to motor and speech difficulties.; Changed rating: AMBER",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:24:27.230900+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.355",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A2 were set to PMID: 26708157; 24203695\nPhenotypes for gene: COL4A2 were set to Cataract (MONDO:0005129), COL4A2-related\nReview for gene: COL4A2 was set to AMBER\ngene: COL4A2 was marked as current diagnostic\nAdded comment: - PMID: 26708157: One family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities where p.Gly800Glu was identified in affected family members. The cataracts identified in this family was considered a phenotypic expansion associated with COL4A2 mutation.\r\n- PMID: 24203695: Heterozygous mice carrying the COL4A2 p.(Gly646Asp) variant demonstrated cerebral, muscular and ocular phenotypes including cataract. \nSources: Literature",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:23:27.732862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:21:34.647789+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESAM as ready",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:21:34.631461+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:14:35.944013+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESAM as Green List (high evidence)",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:14:35.931243+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esam has been classified as Green List (High Evidence).",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:13:41.159422+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-09-04T14:00:44.095387+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.187",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "changed review comment from: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations. \r\n\r\nESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to caus lack of ESAM expression in the capillary endothelial cells of damaged brain. \nSources: Literature; to: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations. \r\n\r\nESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to cause lack of ESAM expression in the capillary endothelial cells of damaged brain. \r\nSources: Literature",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-09-04T13:59:59.174541+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.187",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ESAM was added\ngene: ESAM was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESAM were set to 36996813\nPhenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371\nReview for gene: ESAM was set to GREEN\nAdded comment: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations. \r\n\r\nESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to caus lack of ESAM expression in the capillary endothelial cells of damaged brain. \nSources: Literature",
"entity_name": "ESAM",
"entity_type": "gene"
},
{
"created": "2023-09-04T13:50:31.758406+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.167",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: TBX20: Rating: ; Mode of pathogenicity: None; Publications: 37657916; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-09-04T13:18:03.394067+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX11 as ready",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-04T13:18:03.360647+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-04T09:30:08.723019+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More appropriate for LGMD panel.; to: More appropriate for LGMD panel but rate Amber here to avoid missing diagnoses.",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2023-09-04T09:29:54.538373+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAPN3: Changed rating: AMBER",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2023-09-04T09:29:38.591395+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPN3 as Amber List (moderate evidence)",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2023-09-04T09:29:38.563383+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2023-09-03T12:38:13.751722+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A7 as ready",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2023-09-03T12:38:13.738959+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2023-09-03T12:38:05.319926+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC30A7 was added\ngene: SLC30A7 was added to Bone Marrow Failure. Sources: Expert Review\nMode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A7 were set to 36821639\nPhenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, MIM# 620501\nReview for gene: SLC30A7 was set to RED\nAdded comment: Two sibs reported with compound het variants in this gene and severe growth failure, testicular hypoplasia and progressive bone marrow failure. \nSources: Expert Review",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2023-09-03T12:36:46.718209+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A7 as ready",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2023-09-03T12:36:46.709356+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2023-09-03T12:36:39.469697+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC30A7 was added\ngene: SLC30A7 was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A7 were set to 36821639\nPhenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, MIM# 620501\nReview for gene: SLC30A7 was set to RED\nAdded comment: Two sibs reported with compound het variants in this gene and severe growth failure, testicular hypoplasia and progressive bone marrow failure. \nSources: Expert Review",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2023-09-03T12:35:28.998616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC30A7: Rating: RED; Mode of pathogenicity: None; Publications: 36821639; Phenotypes: Ziegler-Huang syndrome, MIM# 620501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:20:02.314186+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX11 as Green List (high evidence)",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:20:02.301013+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:19:33.810390+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX11 were set to 29459093; 24886874; 33086258; 33785884; 35642566; 35341651\nPhenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866\nReview for gene: SOX11 was set to GREEN\nAdded comment: Over 40 individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism. \nSources: Expert Review",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:19:25.995508+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 40 additional individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism. \nSources: Expert Review; to: Over 40 individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism. \r\nSources: Expert Review",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:19:17.468027+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX11 as ready",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:19:17.451742+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:18:23.669927+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX11 as Green List (high evidence)",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:18:23.656549+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:17:52.959625+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX11 were set to 29459093; 24886874; 33086258; 33785884; 35642566; 35341651\nPhenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866\nReview for gene: SOX11 was set to GREEN\nAdded comment: Over 40 additional individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism. \nSources: Expert Review",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:16:29.418428+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459093, 24886874, 33086258, 33785884, 35642566, 35341651; Phenotypes: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:13:47.301658+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome 9, OMIM # 615866 to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:11:48.041223+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX11 were set to 24886874; 33785884; 33430815; 33086258; 31530938",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:10:54.299706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459093, 24886874, 33086258, 33785884, 35642566, 35341651; Phenotypes: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:10:10.646495+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome 9, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:09:47.338695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX11 were set to 29459093; 24886874",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:09:22.941115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX11: Added comment: Over 40 additional individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism.; Changed publications: 29459093, 24886874, 33086258, 33785884, 35642566, 35341651",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T19:06:33.941489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX11: Changed phenotypes: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866, Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:40:32.685077+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5O as ready",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:40:32.673182+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:40:28.377446+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5O as Green List (high evidence)",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:40:28.367571+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:39:31.446327+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5O was added\ngene: ATP5O was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5O were set to 35621276; 34954817\nPhenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359\nReview for gene: ATP5O was set to GREEN\nAdded comment: Three unrelated families reported. Presenting features included DD, hypotonia, seizures. \nSources: Expert list",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:39:15.460340+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5O as Green List (high evidence)",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:39:15.449554+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:38:20.945894+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5O as Green List (high evidence)",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:38:20.936232+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:38:17.712168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5O as ready",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:38:17.690442+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Red List (Low Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:36:43.050056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5O was added\ngene: ATP5O was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5O were set to 35621276; 34954817\nPhenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359\nReview for gene: ATP5O was set to GREEN\nAdded comment: Three unrelated families reported. Presenting features included DD, hypotonia, seizures. \nSources: Expert list",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:34:25.773433+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5O as ready",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:34:25.736287+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:34:20.140350+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5O as Green List (high evidence)",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:34:20.131488+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:34:05.838535+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5O was added\ngene: ATP5O was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5O were set to 35621276; 34954817\nPhenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359\nReview for gene: ATP5O was set to GREEN\nAdded comment: Prenatal phenotypes reported (IUGR, CHD, oligohydramnios) \nSources: Expert list",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:29:32.921169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIKESHI as ready",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:29:32.912618+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hikeshi has been classified as Green List (High Evidence).",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:16:41.934942+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIKESHI as Green List (high evidence)",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:16:41.923695+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hikeshi has been classified as Green List (High Evidence).",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:16:04.449262+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIKESHI was added\ngene: HIKESHI was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIKESHI were set to 34111619; 26545878\nPhenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM# 616881\nReview for gene: HIKESHI was set to GREEN\nAdded comment: Over 10 individuals reported with recurrent homozygous c.160G>C;p.(Val54Leu) variant, high carrier frequency in the Ashkenazi Jewish population. Optic atrophy reported in several. \nSources: Expert list",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:15:31.231160+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIKESHI as ready",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:15:31.220014+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hikeshi has been classified as Green List (High Evidence).",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:15:29.083735+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIKESHI as Green List (high evidence)",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:15:29.074000+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hikeshi has been classified as Green List (High Evidence).",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:14:31.799064+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIKESHI was added\ngene: HIKESHI was added to Optic Atrophy. Sources: Expert list\nMode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIKESHI were set to 34111619; 26545878\nPhenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM#\t616881\nReview for gene: HIKESHI was set to GREEN\nAdded comment: Over 10 individuals reported with recurrent homozygous c.160G>C;p.(Val54Leu) variant, high carrier frequency in the Ashkenazi Jewish population. Optic atrophy reported in several. \nSources: Expert list",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:07:12.746080+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDZ as ready",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:07:12.738174+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Green List (High Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:07:08.268389+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPDZ as Green List (high evidence)",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:07:08.237687+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Green List (High Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-09-02T18:06:38.629516+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPDZ was added\ngene: MPDZ was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDZ were set to 28556411; 36429029; 36594712\nPhenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219\nReview for gene: MPDZ was set to GREEN\nAdded comment: PMID:28556411 - Three unrelated patients were reported with biallelic MPDZ variants and congenital hydrocephalus and eye/ brain anomalies. The 2.5 year-old with homozygous variant (p.Gln1490Argfs*19) had macular hypoplasia, 8 year-old boy with compound heterozygous variants (p.Arg744Ter & p.Arg1071Ter) had foveal dysplasia with thin inner retina, and 15-month old boy with homozygous variant (p.Ala1760Thr) had iris coloboma and prominent optic nerve. This 15-month old boy also had cholestasis and liver failure associated with a variant in the TJP2 gene (p.[Leu192Profs*3]).\r\n\r\nPMID:36429029 - A Chinese proband with isolated bilateral macular coloboma was identified with compound heterozygous variants (p.Asp1434fs*3 & p.Ser1752Ter). In addition, results from in silico analysis and phenotypes observed in zebrafish knockdown model recapitulate the phenotypes observed in the proband.\r\n\r\nPMID:36594712 - A 4 year-old proband presenting with intermittent exotropia and decreased vision in both eyes was identified with compound heterozygous variants in MPDZ gene (c.3100C>T/ p.Arg1034Ter & c.747 + 2T>G). This patient had macular colobomas and far temporal chorioretinal atrophy in both eyes. His 9 year-old older brother with the same variants had a visual acuity of 20/25 in the right eye and 20/40 in the left eye and was found to have subtle changes in the foveal reflex of both eyes. \nSources: Expert list",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-09-02T16:58:24.302251+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PABPC1 as ready",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2023-09-02T16:58:24.293191+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Green List (High Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2023-09-02T16:58:18.517069+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PABPC1 as Green List (high evidence)",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2023-09-02T16:58:18.505623+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Green List (High Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2023-09-02T16:57:40.889574+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PABPC1 was added\ngene: PABPC1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PABPC1 were set to 35511136\nPhenotypes for gene: PABPC1 were set to Neurodevelopmental disorder, PABPC1-related (MONDO#0700092)\nReview for gene: PABPC1 was set to GREEN\nAdded comment: PMID: 35511136 - 4 probands with an overlapping phenotype of DD, expressive speech delay, and autistic features and heterozygous de novo variants that cluster in the PABP domain of PABPC1. Intellectual disability ranged in the cases from profound (1/4), IQ: 61 (1/4) and IQ: 79 (2/4). Seizures were apparent in the all of the three cases where it was assessed.\r\n\r\nElectroporation of mouse embryo brains showed that Pabpc1 knockdown decreases the proliferation of neural progenitor cells. Wild-type Pabpc1 could rescue this disturbance, whereas 3 of the 4 variants did not. \nSources: Expert Review",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:53:04.326795+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM111A as ready",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:53:04.307289+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Red List (Low Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:52:59.760972+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM111A were changed from to Kenny-Caffey syndrome, type 2, MIM# 127000",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:52:25.809515+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:51:54.701172+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM111A as Red List (low evidence)",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:51:54.680437+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Red List (Low Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:51:21.252490+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:45:56.633148+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from Syndromic intellectual disability; short stature to Syndromic disease, MONDO:0002254, RAP1B-related",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:45:21.188856+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from Syndromic intellectual disability; short stature to Syndromic disease, MONDO:0002254, RAP1B-related",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:45:10.245502+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1B: Changed phenotypes: Syndromic disease, MONDO:0002254, RAP1B-related",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:44:53.435926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from RAP1B‐associated phenotype, no OMIM # to Syndromic disease, MONDO:0002254, RAP1B-related",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:44:19.543028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1B: Changed phenotypes: Syndromic disease, MONDO:0002254, RAP1B-related",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:43:59.214801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from RAP1B‐associated syndrome; intellectual disability; microcephaly; thrombocytopaenia to Syndromic disease, MONDO:0002254, RAP1B-related; intellectual disability; microcephaly; thrombocytopaenia",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:43:10.773448+10:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from Kabuki syndrome to Syndromic disease, MONDO:0002254, RAP1B-related; Kabuki-like syndrome",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:42:34.247494+10:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1B: Changed phenotypes: Syndromic disease, MONDO:0002254, RAP1B-related, Kabuki-like syndrome",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:42:16.386259+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1B as ready",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:42:16.375059+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:01:06.423998+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1B as Amber List (moderate evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
}
]
}