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{
"id": 162,
"hash_id": "568f860222c1fc1c79ca1769",
"name": "Severe microcephaly",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "DNA repair disorders",
"status": "public",
"version": "5.7",
"version_created": "2024-05-02T13:20:12.398046Z",
"relevant_disorders": [
"Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"Severe microcephaly",
"R88"
],
"stats": {
"number_of_genes": 264,
"number_of_strs": 0,
"number_of_regions": 7
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
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{
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"alias": [
"CMT2N",
"AlaRS"
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"601065"
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"alias_name": [
"alanine tRNA ligase 1, cytoplasmic"
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"hgnc_symbol": "AARS",
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}
},
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},
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"28493438",
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"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Developmental and epileptic encephalopathy 29, OMIM:616339",
"Developmental and epileptic encephalopathy, 29, MONDO:0014593"
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"ADAR2",
"DRADA2",
"ADAR2g",
"DRABA2",
"RED1",
"hRED1",
"ADAR2a-L1",
"ADAR2a-L2",
"ADAR2a-L3",
"ADAR2a",
"ADAR2b",
"ADAR2c",
"ADAR2d"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:226",
"gene_name": "adenosine deaminase, RNA specific B1",
"omim_gene": [
"601218"
],
"alias_name": [
"RED1 homolog (rat)"
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"gene_symbol": "ADARB1",
"hgnc_symbol": "ADARB1",
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"GRch37": {
"82": {
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "1996-10-02"
},
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"entity_name": "ADARB1",
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"32220291",
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"Expert Review Green",
"Literature"
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"phenotypes": [
"Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, OMIM:618862"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"LEMD7",
"Lem4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29101",
"gene_name": "ankyrin repeat and LEM domain containing 2",
"omim_gene": [
"616062"
],
"alias_name": [
"LEM domain containing 7"
],
"gene_symbol": "ANKLE2",
"hgnc_symbol": "ANKLE2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:133302254-133338474",
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},
"GRch38": {
"90": {
"location": "12:132725503-132761888",
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}
},
"hgnc_date_symbol_changed": "2008-03-25"
},
"entity_type": "gene",
"entity_name": "ANKLE2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
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"25259927",
"30214071",
"31735666"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Other"
],
"phenotypes": [
"Microcephaly 16, primary, autosomal recessive, OMIM:616681",
"Microcephaly 16, primary, autosomal recessive, MONDO:0014730"
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"AP-4-EPSILON",
"SPG51"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:573",
"gene_name": "adaptor related protein complex 4 epsilon 1 subunit",
"omim_gene": [
"607244"
],
"alias_name": null,
"gene_symbol": "AP4E1",
"hgnc_symbol": "AP4E1",
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"ensembl_genes": {
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"82": {
"location": "15:51200869-51298097",
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}
},
"GRch38": {
"90": {
"location": "15:50908672-51005900",
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}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
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"20972249",
"21620353",
"21937992",
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"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Spastic paraplegia 51, autosomal recessive, OMIM:613744",
"Hereditary spastic paraplegia 51, MONDO:0013401"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:654",
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"omim_gene": [
"103190"
],
"alias_name": [
"small GTP binding protein"
],
"gene_symbol": "ARF3",
"hgnc_symbol": "ARF3",
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"GRch37": {
"82": {
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "1992-07-09"
},
"entity_type": "gene",
"entity_name": "ARF3",
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"penetrance": "unknown",
"mode_of_pathogenicity": null,
"publications": [
"34346499",
"36369169"
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"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
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"Global developmental delay",
"Intellectual disability, MONDO:0001071",
"Seizures",
"Morphological abnormality of the central nervous system",
"microcephaly, MONDO:0001149"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"p20-Arc",
"ARC20"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:707",
"gene_name": "actin related protein 2/3 complex subunit 4",
"omim_gene": [
"604226"
],
"alias_name": [
"Arp2/3 protein complex subunit p20",
"actin related protein 2/3 complex, subunit 4 (20 kD)"
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"hgnc_symbol": "ARPC4",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:9834179-9849410",
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}
},
"GRch38": {
"90": {
"location": "3:9792495-9807726",
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}
},
"hgnc_date_symbol_changed": "1999-08-06"
},
"entity_type": "gene",
"entity_name": "ARPC4",
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"publications": [
"35047857"
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"evidence": [
"NHS GMS",
"Expert Review Green",
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"microcephaly, MONDO:0001149"
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
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"ASP",
"FLJ10517",
"FLJ10549"
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"605481"
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},
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},
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},
{
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"FHM2"
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"sodium pump subunit alpha-2",
"sodium-potassium ATPase catalytic subunit alpha-2"
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},
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}
},
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"transcript": null
},
{
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},
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},
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{
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"transcript": []
},
{
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"Expert list"
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},
{
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"82": {
"location": "X:76760356-77041702",
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"Expert Review Green",
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"transcript": null
},
{
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{
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"transcript": null
},
{
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{
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{
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{
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"Expert Review Green",
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"Illumina TruGenome Clinical Sequencing Services",
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{
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"LFHL1"
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{
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{
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{
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{
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{
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{
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},
{
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},
{
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},
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},
{
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},
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],
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},
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"PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss"
],
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62198448
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},
{
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"entity_type": "region",
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"verbose_name": "7p22.1 region (includes ACTB) Loss",
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"grch38_coordinates": [
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],
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},
{
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],
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}
]
}