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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=588",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=586",
"results": [
{
"created": "2023-06-19T11:59:38.972551+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:58:12.795106+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTEN were set to 20301661\nPhenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome MONDO:0017623\nReview for gene: PTEN was set to GREEN\ngene: PTEN was marked as current diagnostic\nAdded comment: Multiple facial papules (trichilemmomas) are a diagnostic feature of Cowden syndrome which is included in PTEN hamartoma tumor syndrome. \nSources: Expert list",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:52:39.675889+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: APC as ready",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:52:39.665003+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: apc has been classified as Green List (High Evidence).",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:52:35.113189+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: APC as Green List (high evidence)",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:52:35.105003+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: apc has been classified as Green List (High Evidence).",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:52:29.372722+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: APC was added\ngene: APC was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APC were set to 20301519\nPhenotypes for gene: APC were set to Classic or attenuated familial adenomatous polyposis\tMONDO:0021057\nReview for gene: APC was set to GREEN\ngene: APC was marked as current diagnostic\nAdded comment: Benign cutaneous lesions on the face including epidermoid cysts and fibromas are extra-intestinal features of FAP \nSources: Expert list",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:44:29.092223+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SUFU as ready",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:44:29.081352+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:44:20.331795+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:44:20.319001+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:44:14.392922+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUFU were set to 20301330\nPhenotypes for gene: SUFU were set to nevoid basal cell carcinoma syndrome MONDO:0007187\nReview for gene: SUFU was set to GREEN\ngene: SUFU was marked as current diagnostic\nAdded comment: BCCs can present on the face and coarse facial features and facial milia can also be present but are milder than PTCH1-related NBCCS. \nSources: Expert list",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:44:10.668660+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: MAST1 was added\ngene: MAST1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to 31700678; 25666757\nPhenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273\nReview for gene: MAST1 was set to AMBER\nAdded comment: Two large CP cohorts, one with one likely pathogenic de novo mutation and two VUS, one of them inherited paternally. The other cohort showed one more case with a de novo missense mutation predicted to be pathogenic. Note that no information is given on the MRI phenotype in these cohorts, so it might be a phenotypic overlap with MIM#618273. \nSources: Literature",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:41:56.783709+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:41:56.775796+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:41:51.765906+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Green List (high evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:41:51.753895+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:41:37.441986+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTCH1 were set to 20301330\nPhenotypes for gene: PTCH1 were set to nevoid basal cell carcinoma syndrome MONDO:0007187\nReview for gene: PTCH1 was set to GREEN\ngene: PTCH1 was marked as current diagnostic\nAdded comment: BCCs can present on the face and coarse facial features and facial milia are also present in ~60% of cases with a PTCH1 variant. \nSources: Expert list",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:34:38.623493+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HR as ready",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:34:38.615824+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hr has been classified as Green List (High Evidence).",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:33:03.465477+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HR as Green List (high evidence)",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:33:03.452325+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hr has been classified as Green List (High Evidence).",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:32:56.087840+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HR was added\ngene: HR was added to Facial papules. Sources: Literature\nMode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HR were set to 12271294; 9856480; 10205263; 17869066\nPhenotypes for gene: HR were set to atrichia with papular lesions MONDO:0008847\nReview for gene: HR was set to GREEN\ngene: HR was marked as current diagnostic\nAdded comment: Facial papules can be a feature of the condition. \nSources: Literature",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:07:15.542036+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:07:15.534342+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:05:59.448212+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NF1 as Green List (high evidence)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:05:59.437521+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:05:51.518016+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Facial papules. Sources: Literature\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NF1 were set to 23984232; 32298062; 34164111\nPhenotypes for gene: NF1 were set to neurofibromatosis type 1 MONDO:0018975\nReview for gene: NF1 was set to GREEN\ngene: NF1 was marked as current diagnostic\nAdded comment: Facial papules and facial plexiform neurofibromatosis have been reported as a presenting feature of the condition. \nSources: Literature",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-06-19T11:00:14.078706+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Facial papules and lesions to Facial papules",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-19T10:52:07.529410+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLCN as ready",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:52:07.516284+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flcn has been classified as Green List (High Evidence).",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:52:04.597492+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLCN as Green List (high evidence)",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:52:04.583827+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flcn has been classified as Green List (High Evidence).",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:51:51.317893+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLCN was added\ngene: FLCN was added to Facial papules and lesions. Sources: Expert list\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLCN were set to 20301695\nPhenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome MONDO:0007607\nReview for gene: FLCN was set to GREEN\ngene: FLCN was marked as current diagnostic\nAdded comment: Multiple facial papules (fibrofolliculomas) are a feature of the condition. \nSources: Expert list",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:47:28.903501+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYLD as ready",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:47:28.896006+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyld has been classified as Green List (High Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:47:25.462212+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYLD as Green List (high evidence)",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:47:25.450539+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyld has been classified as Green List (High Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:47:19.526829+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYLD was added\ngene: CYLD was added to Facial papules and lesions. Sources: Expert list\nMode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYLD were set to 32298062\nPhenotypes for gene: CYLD were set to familial cylindromatosis MONDO:0007565\nReview for gene: CYLD was set to GREEN\ngene: CYLD was marked as current diagnostic\nAdded comment: Multiple facial papules are a feature of the condition. \nSources: Expert list",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:42:15.347117+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CDKN1B as ready",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:42:15.317862+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:42:11.563400+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CDKN1B as Amber List (moderate evidence)",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:42:11.559720+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included as MEN1 differential diagnosis",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:42:11.536296+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:41:50.700200+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CDKN1B as Amber List (moderate evidence)",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:41:50.691336+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:41:42.482062+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDKN1B was added\ngene: CDKN1B was added to Facial papules and lesions. Sources: Expert list\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKN1B were set to 20301710\nPhenotypes for gene: CDKN1B were set to multiple endocrine neoplasia type 4 MONDO:0012552\nReview for gene: CDKN1B was set to AMBER\nAdded comment: Overlapping phenotype with MEN1 with possible association with facial angiofibromas, but I couldn't find any evidence in the literature that these are present in individuals with MEN4. \nSources: Expert list",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:09:25.799661+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RET as ready",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:09:25.787824+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ret has been classified as Green List (High Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:09:22.756142+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RET as Green List (high evidence)",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:09:22.746042+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ret has been classified as Green List (High Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-06-19T10:09:15.442509+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Facial papules and lesions. Sources: Expert list\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RET were set to 20301434\nPhenotypes for gene: RET were set to multiple endocrine neoplasia type 2B MONDO:0008082\nMode of pathogenicity for gene: RET was set to Other\nReview for gene: RET was set to GREEN\ngene: RET was marked as current diagnostic\nAdded comment: Distinctive facies including lip mucosal neuromas resulting in thick vermilion of the upper and lower lip, and mucosal neuromas of the lips and tongue are characteristic of MEN2B. Gain of function variants mainly involving codon 918 (~95%) cause the condition. \nSources: Expert list",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:18:15.542082+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MEN1 as ready",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:18:15.534523+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:18:05.371508+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MEN1 as Green List (high evidence)",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:18:05.362068+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:17:59.303523+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Facial papules and lesions. Sources: Expert list\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEN1 were set to 20301710\nPhenotypes for gene: MEN1 were set to multiple endocrine neoplasia type 1 MONDO:0007540\nReview for gene: MEN1 was set to GREEN\ngene: MEN1 was marked as current diagnostic\nAdded comment: Facial angiofibromas are a non-endocrine tumour that can be present in multiple endocrine neoplasia type 1. \nSources: Expert list",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:14:27.166556+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:14:27.152022+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:14:24.675886+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TSC2 as Green List (high evidence)",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:14:24.667533+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:14:17.705711+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Facial papules and lesions. Sources: Expert list\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSC2 were set to 20301399\nPhenotypes for gene: TSC2 were set to tuberous sclerosis MONDO:0001734\nReview for gene: TSC2 was set to GREEN\ngene: TSC2 was marked as current diagnostic\nAdded comment: Facial angiofibromas are a characteristic feature of the tuberous sclerosis \nSources: Expert list",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:13:05.307259+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:13:05.293496+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:12:57.125564+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TSC1 as Green List (high evidence)",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:12:57.116906+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:12:51.060123+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Facial papules and lesions. Sources: Expert list\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSC1 were set to 20301399\nPhenotypes for gene: TSC1 were set to tuberous sclerosis MONDO:0001734\nReview for gene: TSC1 was set to GREEN\ngene: TSC1 was marked as current diagnostic\nAdded comment: Facial angiofibromas are a characteristic feature of the tuberous sclerosis \nSources: Expert list",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-06-19T09:06:00.988227+10:00",
"panel_name": "Facial papules and lesions",
"panel_id": 4093,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Facial papules to Facial papules and lesions",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-17T16:34:15.747125+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ECM1 as ready",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:34:15.736172+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ecm1 has been classified as Green List (High Evidence).",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:34:13.023700+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ECM1 as Green List (high evidence)",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:34:13.016203+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ecm1 has been classified as Green List (High Evidence).",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:34:05.918377+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ECM1 was added\ngene: ECM1 was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECM1 were set to 26803878\nPhenotypes for gene: ECM1 were set to lipoid proteinosis MONDO:0009530\nReview for gene: ECM1 was set to GREEN\ngene: ECM1 was marked as current diagnostic\nAdded comment: One of the predominant features of lipoid proteinosis is multiple beaded papules along the eyelid margins and inner canthus known as moniliform blepharosis. \nSources: Expert list",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:21:49.549446+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP2A2 as ready",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:21:49.538441+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:21:46.815082+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2A2 as Green List (high evidence)",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:21:46.803150+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:21:39.084149+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP2A2 was added\ngene: ATP2A2 was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2A2 were set to 10080178; 31911771\nPhenotypes for gene: ATP2A2 were set to Darier disease MONDO:0007417\nReview for gene: ATP2A2 was set to GREEN\ngene: ATP2A2 was marked as current diagnostic\nAdded comment: Papules on the seborrheic areas of the head and neck are a predominant feature of Darier disease. \nSources: Expert list",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:16:28.260156+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:16:28.242109+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:13:13.497023+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCC6 as Green List (high evidence)",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:13:13.486678+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2023-06-17T16:13:04.578255+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCC6 was added\ngene: ABCC6 was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCC6 were set to 20301292\nPhenotypes for gene: ABCC6 were set to autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925\nReview for gene: ABCC6 was set to GREEN\ngene: ABCC6 was marked as current diagnostic\nAdded comment: The primary skin lesions present in pseudoxanthoma elasticum are papules that often develop on the lateral aspect of the neck. \nSources: Expert list",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2023-06-17T15:57:29.453094+10:00",
"panel_name": "Facial papules",
"panel_id": 4093,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Facial papules\nSet list of related panels to Papule HP:0200034\nSet panel types to: Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-17T02:26:34.640320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.943",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22565872, 29150894, 37010288; Phenotypes: Muenke syndrome, OMIM:602849, Hypochondroplasia, OMIM:146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:15:25.163648+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTSSA were changed from complex hereditary spastic paraplegia, MONDO:0015150 to Spastic paraplegia 90B, autosomal recessive , MIM# 620417; Spastic paraplegia 90A, autosomal dominant, MIM# 620416",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:14:57.786933+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTSSA: Changed rating: AMBER",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:14:37.659832+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTSSA: Changed rating: GREEN",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:14:26.718495+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTSSA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 90B, autosomal recessive , MIM# 620417, Spastic paraplegia 90A, autosomal dominant, MIM# 620416; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:14:01.279304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTSSA were changed from complex hereditary spastic paraplegia, MONDO:0015150 to Spastic paraplegia 90B, autosomal recessive , MIM# 620417; Spastic paraplegia 90A, autosomal dominant, MIM# 620416",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:13:35.313665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTSSA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 90B, autosomal recessive , MIM# 620417, Spastic paraplegia 90A, autosomal dominant, MIM# 620416; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:11:30.529950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VWA8 were changed from Retinitis pigmentosa (MONDO:0019200), VWA8-related to Retinitis pigmentosa 97, MIM#620422",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-06-17T01:11:03.651156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VWA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 97, MIM#620422; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-06-16T05:27:39.627826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: There are at least three unrelated cases with monoallelic variants in ARID1B gene reported with either cleft palate, cleft uvula or bifid uvula. Hence, this gene can be added with green rating in the Clefting disorders panel.\r\n\r\nPMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available.\r\n\r\nOne patient with ARID1B variant (c.3183_3184insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients with ARID1B variants (c.4155_4156insA/ p.Asn1386LysfsTer18 & c.2620+5G>A) were reported with bifid uvula in DECIPHER database.; to: Although there are more than three unrelated cases with ARID1B monoallelic variants reported with either cleft palate, cleft uvula or bifid uvula, clefting isn not consistently present in patients with ARID1B variants. Hence, this gene can be added with amber rating in the Clefting disorders panel.\r\n\r\nPMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available.\r\n\r\nOf >100 patients with ARID1B variants in the DECIPHER database, only one patient (c.3183_3184insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients (c.4155_4156insA/ p.Asn1386LysfsTer18 & c.2620+5G>A) were reported with bifid uvula. ",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-06-16T05:24:04.910004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: ARID1B: Changed rating: AMBER",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-06-16T05:16:58.534148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: This gene should be added to the Clefting disorders panel with a green rating as there are four unrelated cases presenting with either cleft palate and/or bifid uvula.\r\n\r\nPMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.\r\n\r\nIn addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288); to: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistent among patients identified with monoallelic variants in CHD4 gene. Hence, this gene should be added to the Clefting disorders panel with amber rating. \r\n\r\nPMID:31388190 reported 32 patients with heterozygous variants in CHD4 gene, of which one patient (p.Gln715Ter) had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.\r\n\r\nIn addition, 2 out of 10 patients with pathogenic/ likely pathogenic heterozygous variants from the DDD study were reported with cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-06-16T05:14:42.927695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: CHD4: Changed rating: AMBER",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-06-16T05:05:02.722468+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2023-06-16T04:58:43.831954+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2023-06-15T21:16:07.112137+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235985, 27159028, 37010288; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DDX3X",
"entity_type": "gene"
}
]
}