{"count":220504,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1556","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1554","results":[{"created":"2020-10-04T20:01:16.653257+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:00:40.601945+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOTCH3 as ready","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-10-04T20:00:40.591263+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch3 has been classified as Amber List (Moderate Evidence).","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-10-04T19:56:34.775087+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A3 as ready","entity_name":"ATP1A3","entity_type":"gene"},{"created":"2020-10-04T19:56:34.765997+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a3 has been classified as Green List (High Evidence).","entity_name":"ATP1A3","entity_type":"gene"},{"created":"2020-10-04T19:56:31.960132+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP1A3 were changed from  to Alternating hemiplegia of childhood 2, MIM# 614820","entity_name":"ATP1A3","entity_type":"gene"},{"created":"2020-10-04T19:56:05.707301+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP1A3 were set to ","entity_name":"ATP1A3","entity_type":"gene"},{"created":"2020-10-04T19:55:39.506229+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP1A3","entity_type":"gene"},{"created":"2020-10-04T19:55:10.121687+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22842232, 22850527, 24842602; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP1A3","entity_type":"gene"},{"created":"2020-10-04T19:52:46.346785+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A2 as ready","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-04T19:52:46.332893+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Green List (High Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-04T19:52:35.354043+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP1A2 were changed from  to Alternating hemiplegia of childhood 1, MIM# 104290","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-04T19:52:11.458088+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP1A2 were set to ","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-04T19:51:49.982276+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-04T19:51:22.509508+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24097848, 21352219, 17435187, 15286158; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-04T18:24:22.031833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4773","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRAS were set to 28289718","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-10-04T18:24:03.504112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4772","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRAS were changed from Noonan syndrome to Noonan syndrome 11, MIM#618499","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-10-04T18:23:44.929570+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4771","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRAS: Changed phenotypes: Noonan syndrome 11, MIM#618499","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-10-04T18:23:30.985924+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRAS were set to 28289718","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-10-04T18:23:00.427326+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRAS were changed from Noonan syndrome to Noonan syndrome 11, MIM#618499","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-10-04T18:22:35.499565+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRAS: Changed phenotypes: Noonan syndrome 11, MIM#618499","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-10-04T11:57:07.803485+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BLOC1S6 as Amber List (moderate evidence)","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-10-04T11:57:07.792393+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-10-04T11:56:40.279078+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least three unrelated families reported. \nSources: Expert list; to: At least three unrelated families reported, two of the individuals had the same homozygous variant. Note that one of the articles has been retracted due to some of the data having been falsified.\r\nSources: Expert list","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-10-04T11:56:12.977726+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BLOC1S6: Changed rating: AMBER; Changed phenotypes: Hermansky-pudlak syndrome 9, MIM# 614171","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-10-04T09:02:07.618396+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T09:01:53.851243+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration. \nSources: Literature; to: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration. \r\n\r\nSingle individual with de novo variant reported, postulated dominant negative effect. Evidence for mono allelic variants causing disease is limited.\r\nSources: Literature","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T09:01:45.148244+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T09:01:24.872881+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4771","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T09:00:55.555540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4770","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron  degeneration. \nSources: Literature; to: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron  degeneration.\r\n\r\nSingle individual with de novo variant reported, postulated dominant negative effect. Evidence for mono allelic variants causing disease is limited.\r\nSources: Literature","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T09:00:11.417071+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4770","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T08:59:28.331146+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3054","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T08:58:34.984198+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3053","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T07:32:39.675509+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3053","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"changed review comment from: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variant were on the same allele, as phase was not determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).; to: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variant were on the same allele, as phase was not determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides produced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration in mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T07:29:45.415855+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3053","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"changed review comment from: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variants were on the same allele, as phase was not been determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).; to: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variant were on the same allele, as phase was not determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T07:28:57.694075+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3053","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"changed review comment from: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could be ruled out that the de novo and maternally inherited variants were on the same allele, as phase was not been determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).; to: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variants were on the same allele, as phase was not been determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-04T07:27:49.272296+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3053","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"reviewed gene: NEMF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32934225; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEMF","entity_type":"gene"},{"created":"2020-10-03T19:35:51.315949+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM43 as ready","entity_name":"TMEM43","entity_type":"gene"},{"created":"2020-10-03T19:35:51.301115+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem43 has been classified as Green List (High Evidence).","entity_name":"TMEM43","entity_type":"gene"},{"created":"2020-10-03T19:35:48.677933+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM43 were changed from  to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400","entity_name":"TMEM43","entity_type":"gene"},{"created":"2020-10-03T19:35:27.726289+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM43 were set to ","entity_name":"TMEM43","entity_type":"gene"},{"created":"2020-10-03T19:35:01.477344+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM43","entity_type":"gene"},{"created":"2020-10-03T19:34:38.207504+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313022, 21214875, 23812740, 22725725, 24598986, 29980933; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM43","entity_type":"gene"},{"created":"2020-10-03T19:31:54.406500+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSP as ready","entity_name":"DSP","entity_type":"gene"},{"created":"2020-10-03T19:31:54.394703+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsp has been classified as Green List (High Evidence).","entity_name":"DSP","entity_type":"gene"},{"created":"2020-10-03T19:31:50.798929+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSP were changed from  to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450","entity_name":"DSP","entity_type":"gene"},{"created":"2020-10-03T19:31:22.589262+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSP were set to ","entity_name":"DSP","entity_type":"gene"},{"created":"2020-10-03T19:30:58.472033+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DSP","entity_type":"gene"},{"created":"2020-10-03T19:30:28.133201+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15941723, 25765472, 23954618, 20864495, 21397041, 24938629, 22240500; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DSP","entity_type":"gene"},{"created":"2020-10-03T18:28:54.747433+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSC2 as ready","entity_name":"DSC2","entity_type":"gene"},{"created":"2020-10-03T18:28:54.735134+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsc2 has been classified as Green List (High Evidence).","entity_name":"DSC2","entity_type":"gene"},{"created":"2020-10-03T18:28:51.933390+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSC2 were changed from  to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476","entity_name":"DSC2","entity_type":"gene"},{"created":"2020-10-03T18:28:07.792977+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSC2 were set to ","entity_name":"DSC2","entity_type":"gene"},{"created":"2020-10-03T18:27:42.381388+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSC2","entity_type":"gene"},{"created":"2020-10-03T18:27:17.398631+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17963498, 21062920, 23863954, 17186466, 18957847, 17033975, 28339476; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSC2","entity_type":"gene"},{"created":"2020-10-03T17:47:29.601719+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76, MIM# 618787","entity_name":"PLS1","entity_type":"gene"},{"created":"2020-10-03T17:47:06.284118+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLS1: Changed phenotypes: Deafness, autosomal dominant 76, MIM# 618787","entity_name":"PLS1","entity_type":"gene"},{"created":"2020-10-03T17:46:46.808487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4770","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76, MIM# 618787","entity_name":"PLS1","entity_type":"gene"},{"created":"2020-10-03T17:46:28.962645+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4769","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLS1: Changed phenotypes: Deafness, autosomal dominant 76, MIM# 618787","entity_name":"PLS1","entity_type":"gene"},{"created":"2020-10-03T17:30:38.116249+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4769","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOMER2 as ready","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:30:38.107449+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4769","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: homer2 has been classified as Green List (High Evidence).","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:30:29.585771+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4769","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HOMER2 were changed from  to Deafness, autosomal dominant 68, MIM# 616707","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:30:14.154740+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4768","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HOMER2 were set to ","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:29:55.363141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4767","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOMER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:29:37.507006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4766","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HOMER2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25816005, 30047143, 25816005; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:28:29.642717+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOMER2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:28:15.060327+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOMER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T17:27:47.499188+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HOMER2: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOMER2","entity_type":"gene"},{"created":"2020-10-03T14:44:50.040213+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USH1G as ready","entity_name":"USH1G","entity_type":"gene"},{"created":"2020-10-03T14:44:50.025925+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ush1g has been classified as Green List (High Evidence).","entity_name":"USH1G","entity_type":"gene"},{"created":"2020-10-03T14:44:33.043581+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USH1C were set to ","entity_name":"USH1C","entity_type":"gene"},{"created":"2020-10-03T14:44:17.390303+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX6 as ready","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-10-03T14:44:17.376753+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex6 has been classified as Green List (High Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-10-03T14:44:13.536562+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX6 were set to ","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-10-03T14:44:01.607197+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27302843, 32866347, 31884617, 29676688, 26387595; Phenotypes: Heimler syndrome 2, MIM# 616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-10-03T14:41:09.107539+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP250 as ready","entity_name":"CEP250","entity_type":"gene"},{"created":"2020-10-03T14:41:09.099059+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep250 has been classified as Green List (High Evidence).","entity_name":"CEP250","entity_type":"gene"},{"created":"2020-10-03T14:41:05.276893+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP250 as Green List (high evidence)","entity_name":"CEP250","entity_type":"gene"},{"created":"2020-10-03T14:41:05.265227+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep250 has been classified as Green List (High Evidence).","entity_name":"CEP250","entity_type":"gene"},{"created":"2020-10-03T14:40:42.518631+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP250 was added\ngene: CEP250 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP250 were set to 24780881; 29718797; 30459346\nPhenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2, MIM# 618358\nReview for gene: CEP250 was set to GREEN\nAdded comment: Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. Three unrelated families reported. \nSources: Expert list","entity_name":"CEP250","entity_type":"gene"},{"created":"2020-10-03T14:39:30.104928+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX1 as ready","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:39:30.085168+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:39:17.545257+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX1 as Green List (high evidence)","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:39:17.537028+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:38:54.660495+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PEX1 was added\ngene: PEX1 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX1 were set to 32596134; 31831025; 27872819; 27633571; 27302843\nPhenotypes for gene: PEX1 were set to Heimler syndrome 1, MIM# 234580\nReview for gene: PEX1 was set to GREEN\nAdded comment: Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum, is a rare autosomal recessive disorder characterised by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, nail abnormalities, and retinitis pigmentosa. More than 5 unrelated families reported. \nSources: Expert list","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:37:45.575891+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX1 as ready","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:37:45.564096+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:37:42.721173+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX1 were set to ","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:37:17.825351+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32596134, 31831025, 27872819, 27633571, 27302843; Phenotypes: Heimler syndrome 1, MIM# 234580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-10-03T14:34:21.739297+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDZD7 as ready","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-10-03T14:34:21.730305+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdzd7 has been classified as Amber List (Moderate Evidence).","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-10-03T14:34:19.006584+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDZD7 were set to ","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-10-03T14:34:07.390768+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDZD7 as Amber List (moderate evidence)","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-10-03T14:34:07.379157+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdzd7 has been classified as Amber List (Moderate Evidence).","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-10-03T14:33:57.279621+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple families reported, supportive functional data, including animal model. DEFINITIVE by ClinGen.; to: Association with deafness: Multiple families reported, supportive functional data, including animal model. DEFINITIVE by ClinGen.\r\n\r\nAssociation with Usher syndrome: only reported in conjunction with other Usher syndrome variants, digenic inheritance model proposed, PMID: 20440071","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-10-03T14:33:05.382315+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDZD7: Changed rating: AMBER; Changed publications: 20440071, 19028668, 26416264, 26849169, 27068579, 26445815, 28173822, 24334608; Changed phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472, Deafness, autosomal recessive 57, MIM# 618003","entity_name":"PDZD7","entity_type":"gene"},{"created":"2020-10-03T14:30:16.134450+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH15 as ready","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-03T14:30:16.123888+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh15 has been classified as Green List (High Evidence).","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-03T14:30:00.517549+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCDH15 were set to ","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-03T14:29:19.667987+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP78 as ready","entity_name":"CEP78","entity_type":"gene"}]}