Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=115
{ "count": 35555, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=116", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=114", "results": [ { "gene_data": { "alias": [ "Sak" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11397", "gene_name": "polo like kinase 4", "omim_gene": [ "605031" ], "alias_name": null, "gene_symbol": "PLK4", "hgnc_symbol": "PLK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:128802016-128820350", "ensembl_id": "ENSG00000142731" } }, "GRch38": { "90": { "location": "4:127880861-127899195", "ensembl_id": "ENSG00000142731" } } }, "hgnc_date_symbol_changed": "2004-01-28" }, "entity_type": "gene", "entity_name": "PLK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25344692", "25320347", "27650967" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP434C245" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24488", "gene_name": "POC1 centriolar protein A", "omim_gene": [ "614783" ], "alias_name": null, "gene_symbol": "POC1A", "hgnc_symbol": "POC1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:52109269-52188706", "ensembl_id": "ENSG00000164087" } }, "GRch38": { "90": { "location": "3:52075253-52154690", "ensembl_id": "ENSG00000164087" } } }, "hgnc_date_symbol_changed": "2010-03-26" }, "entity_type": "gene", "entity_name": "POC1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22840364", "22840363", "26374189", "26162852", "26791357" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DRES-17", "HTCD37", "H-PRUNE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13420", "gene_name": "prune exopolyphosphatase 1", "omim_gene": [ "617413" ], "alias_name": null, "gene_symbol": "PRUNE1", "hgnc_symbol": "PRUNE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:150980896-151008189", "ensembl_id": "ENSG00000143363" } }, "GRch38": { "90": { "location": "1:151008420-151035713", "ensembl_id": "ENSG00000143363" } } }, "hgnc_date_symbol_changed": "2016-06-06" }, "entity_type": "gene", "entity_name": "PRUNE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26539891", "28334956", "33105479" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies\t, MIM#617481" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0078", "hHR21", "SCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9811", "gene_name": "RAD21 cohesin complex component", "omim_gene": [ "606462" ], "alias_name": [ "sister chromatid cohesion 1", "kleisin" ], "gene_symbol": "RAD21", "hgnc_symbol": "RAD21", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:117858174-117887105", "ensembl_id": "ENSG00000164754" } }, "GRch38": { "90": { "location": "8:116845935-116874866", "ensembl_id": "ENSG00000164754" } } }, "hgnc_date_symbol_changed": "1996-06-12" }, "entity_type": "gene", "entity_name": "RAD21", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22633399", "32193685" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cornelia de Lange syndrome 4, MIM#\t614701" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RNU4ATAC1" ], "biotype": "snRNA", "hgnc_id": "HGNC:34016", "gene_name": "RNA, U4atac small nuclear (U12-dependent splicing)", "omim_gene": [ "601428" ], "alias_name": null, "gene_symbol": "RNU4ATAC", "hgnc_symbol": "RNU4ATAC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:122288457-122288583", "ensembl_id": "ENSG00000264229" } }, "GRch38": { "90": { "location": "2:121530881-121531007", "ensembl_id": "ENSG00000264229" } } }, "hgnc_date_symbol_changed": "2008-03-12" }, "entity_type": "gene", "entity_name": "RNU4ATAC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21474760", "20301772" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "non-coding gene" ], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOV", "QM", "DXS648E", "DXS648", "FLJ23544", "L10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10298", "gene_name": "ribosomal protein L10", "omim_gene": [ "312173" ], "alias_name": null, "gene_symbol": "RPL10", "hgnc_symbol": "RPL10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153618315-153637504", "ensembl_id": "ENSG00000147403" } }, "GRch38": { "90": { "location": "X:154389955-154409168", "ensembl_id": "ENSG00000147403" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "RPL10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25316788", "25846674", "26290468" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mental retardation, X-linked, syndromic, 35, MIM#\t300998" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1784", "KIAA1987", "FANCP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23845", "gene_name": "SLX4 structure-specific endonuclease subunit", "omim_gene": [ "613278" ], "alias_name": [ "Fanconi anemia, complementation group P" ], "gene_symbol": "SLX4", "hgnc_symbol": "SLX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3631182-3661599", "ensembl_id": "ENSG00000188827" } }, "GRch38": { "90": { "location": "16:3581181-3611598", "ensembl_id": "ENSG00000188827" } } }, "hgnc_date_symbol_changed": "2010-09-13" }, "entity_type": "gene", "entity_name": "SLX4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Fanconi anemia, complementation group P, MIM#613951" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DXS423E", "KIAA0178", "SB1.8", "Smcb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11111", "gene_name": "structural maintenance of chromosomes 1A", "omim_gene": [ "300040" ], "alias_name": null, "gene_symbol": "SMC1A", "hgnc_symbol": "SMC1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:53401070-53449677", "ensembl_id": "ENSG00000072501" } }, "GRch38": { "90": { "location": "X:53374149-53422728", "ensembl_id": "ENSG00000072501" } } }, "hgnc_date_symbol_changed": "2006-07-06" }, "entity_type": "gene", "entity_name": "SMC1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cornelia de Lange syndrome 2, MIM#\t300590" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HCAP", "BAM", "SMC3L1", "bamacan" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2468", "gene_name": "structural maintenance of chromosomes 3", "omim_gene": [ "606062" ], "alias_name": [ "bamacan proteoglycan" ], "gene_symbol": "SMC3", "hgnc_symbol": "SMC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:112327449-112364394", "ensembl_id": "ENSG00000108055" } }, "GRch38": { "90": { "location": "10:110567691-110604636", "ensembl_id": "ENSG00000108055" } } }, "hgnc_date_symbol_changed": "2006-07-06" }, "entity_type": "gene", "entity_name": "SMC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cornelia de Lange syndrome 3, MIM#\t610759" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4670", "gene_name": "GTP binding protein 2", "omim_gene": [ "607434" ], "alias_name": null, "gene_symbol": "GTPBP2", "hgnc_symbol": "GTPBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:43573053-43596899", "ensembl_id": "ENSG00000172432" } }, "GRch38": { "90": { "location": "6:43605316-43629162", "ensembl_id": "ENSG00000172432" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "GTPBP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26675814", "29449720", "30790272" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Jaberi-Elahi syndrome, MIM#617988" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NUF2R", "CT106" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14621", "gene_name": "NUF2, NDC80 kinetochore complex component", "omim_gene": [ "611772" ], "alias_name": [ "cancer/testis antigen 106" ], "gene_symbol": "NUF2", "hgnc_symbol": "NUF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:163236366-163325554", "ensembl_id": "ENSG00000143228" } }, "GRch38": { "90": { "location": "1:163266576-163355764", "ensembl_id": "ENSG00000143228" } } }, "hgnc_date_symbol_changed": "2006-11-07" }, "entity_type": "gene", "entity_name": "NUF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33721060" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "microcephaly", "short stature", "bilateral vocal cord paralysis", "micrognathia", "atrial septal defect" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital 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"types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0949", "STK21", "CRIK", "CITK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1985", "gene_name": "citron rho-interacting serine/threonine kinase", "omim_gene": [ "605629" ], "alias_name": [ "serine/threonine kinase 21" ], "gene_symbol": "CIT", "hgnc_symbol": "CIT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:120123595-120315095", "ensembl_id": "ENSG00000122966" } }, "GRch38": { "90": { "location": "12:119685790-119877291", "ensembl_id": "ENSG00000122966" } } }, "hgnc_date_symbol_changed": "1999-08-05" }, 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