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Skeletal dysplasia v8.37 PTBP1 Eleanor Williams Tag Q3_25_promote_green was removed from gene: PTBP1.
Tag Q3_25_NHS_review was removed from gene: PTBP1.
Skeletal dysplasia v8.37 FGF4 Eleanor Williams Tag Q3_25_promote_green was removed from gene: FGF4.
Skeletal dysplasia v8.37 EVC2 Eleanor Williams Tag Q3_25_MOI was removed from gene: EVC2.
Skeletal dysplasia v8.37 DDR2 Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: DDR2.
Tag Q1_25_ MOI was removed from gene: DDR2.
Skeletal dysplasia v8.37 CTGF Eleanor Williams Tag Q1_25_ promote_green was removed from gene: CTGF.
Skeletal dysplasia v8.37 VPS33A Eleanor Williams reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v8.37 SLCO2A1 Eleanor Williams commented on gene: SLCO2A1: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Skeletal dysplasia v8.37 SLC13A1 Eleanor Williams reviewed gene: SLC13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v8.37 RSPRY1 Eleanor Williams reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v8.37 PTBP1 Eleanor Williams reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v8.37 FGF4 Eleanor Williams commented on gene: FGF4: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Skeletal dysplasia v8.37 EVC2 Eleanor Williams commented on gene: EVC2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Skeletal dysplasia v8.37 DDR2 Eleanor Williams commented on gene: DDR2: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. Unlikely that patients with WARBURG-CINOTTI SYNDROME woud be tested via a skeletal dysplasia test. Primary phenotype is not skeletal dysplasia but contractures.
Skeletal dysplasia v8.37 CTGF Eleanor Williams reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v8.36 VPS33A Eleanor Williams Source NHS GMS was added to VPS33A.
Source Expert Review Green was added to VPS33A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v8.36 SLCO2A1 Eleanor Williams Mode of inheritance for gene SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v8.36 SLC13A1 Eleanor Williams Source NHS GMS was added to SLC13A1.
Source Expert Review Green was added to SLC13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v8.36 RSPRY1 Eleanor Williams Source NHS GMS was added to RSPRY1.
Source Expert Review Green was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v8.36 PTBP1 Eleanor Williams Source Expert Review Green was added to PTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v8.36 FGF4 Eleanor Williams Source NHS GMS was added to FGF4.
Source Expert Review Green was added to FGF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v8.36 EVC2 Eleanor Williams Mode of inheritance for gene EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v8.36 CTGF Eleanor Williams Source NHS GMS was added to CTGF.
Source Expert Review Green was added to CTGF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.157 SCN4A Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: SCN4A.
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTBP1.
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 MYH3 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: MYH3.
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: LMNB2.
Tag Q2_25_ NHS_review was removed from gene: LMNB2.
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. The GMS reviewers noted as follows: Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.

The GMS reviewers noted as follows:
Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: GPKOW.
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: EVC2.
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Heterozygous variants cause Weyers acrofacial dysostosis: dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Polydactyly detectable prenatally. Hence, monoallelic MOI should be added.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Heterozygous variants cause Weyers acrofacial dysostosis: dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Polydactyly detectable prenatally. Hence, monoallelic MOI should be added.
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: MED12.
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple reports of prenatal features in female pregnancies e.g. PMID:3970286; PMID:40884785,PMID:34987808.; to: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows: Multiple reports of prenatal features in female pregnancies e.g. PMID:3970286; PMID:40884785,PMID:34987808.
Fetal anomalies v6.157 LIFR Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: LIFR.
Fetal anomalies v6.157 LIFR Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The GMS reviewers noted as follows: Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal.

The GMS reviewers noted as follows:
Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: SIX5.
Tag Q3_25_demote_red was removed from gene: SIX5.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PLD1.
Tag Q3_25_expert_review was removed from gene: PLD1.
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LINC01082.
Tag Q3_25_expert_review was removed from gene: LINC01082.
Tag Q3_25_NHS_review was removed from gene: LINC01082.
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LINC01081.
Tag Q3_25_expert_review was removed from gene: LINC01081.
Tag Q3_25_NHS_review was removed from gene: LINC01081.
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: KIAA0556.
Tag Q3_25_expert_review was removed from gene: KIAA0556.
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: EMX2.
Tag Q3_25_demote_amber was removed from gene: EMX2.
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: DISP1.
Tag Q3_25_expert_review was removed from gene: DISP1.
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 SCN4A Achchuthan Shanmugasundram commented on gene: SCN4A
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; Changed rating: GREEN
Fetal anomalies v6.157 MYH3 Achchuthan Shanmugasundram commented on gene: MYH3
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram commented on gene: MED12
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram commented on gene: LMNB2
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 LIFR Achchuthan Shanmugasundram commented on gene: LIFR
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram edited their review of gene: KIAA0556: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram commented on gene: EVC2
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram commented on gene: DISP1
Fetal anomalies v6.156 SIX5 Achchuthan Shanmugasundram Source NHS GMS was added to SIX5.
Source Expert Review Red was added to SIX5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.156 SCN4A Achchuthan Shanmugasundram Source NHS GMS was added to SCN4A.
Mode of inheritance for gene SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.156 PLD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 MYH3 Achchuthan Shanmugasundram Source NHS GMS was added to MYH3.
Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.156 MED12 Achchuthan Shanmugasundram Source NHS GMS was added to MED12.
Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.156 LINC01082 Achchuthan Shanmugasundram Source Expert Review Green was added to LINC01082.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 LINC01081 Achchuthan Shanmugasundram Source Expert Review Green was added to LINC01081.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 GPKOW Achchuthan Shanmugasundram Source NHS GMS was added to GPKOW.
Fetal anomalies v6.156 EVC2 Achchuthan Shanmugasundram Source NHS GMS was added to EVC2.
Mode of inheritance for gene EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.156 EMX2 Achchuthan Shanmugasundram Source NHS GMS was added to EMX2.
Source Expert Review Amber was added to EMX2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v6.156 DISP1 Achchuthan Shanmugasundram Source NHS GMS was added to DISP1.
Mode of inheritance for gene DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v8.33 TNR Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: TNR.
Childhood onset hereditary spastic paraplegia v8.33 SOD1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SOD1.
Childhood onset hereditary spastic paraplegia v8.33 OGDHL Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: OGDHL.
Childhood onset hereditary spastic paraplegia v8.33 NOTCH3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NOTCH3.
Tag Q3_25_NHS_review was removed from gene: NOTCH3.
Childhood onset hereditary spastic paraplegia v8.33 INPP4A Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: INPP4A.
Childhood onset hereditary spastic paraplegia v8.33 FLVCR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: FLVCR1.
Childhood onset hereditary spastic paraplegia v8.33 EXOSC8 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOSC8.
Skeletal ciliopathies v6.7 EVC2 Eleanor Williams Tag Q3_25_MOI was removed from gene: EVC2.
Skeletal ciliopathies v6.7 EVC2 Eleanor Williams commented on gene: EVC2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Skeletal ciliopathies v6.6 EVC2 Eleanor Williams Source NHS GMS was added to EVC2.
Mode of inheritance for gene EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v8.33 ATL1 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: ATL1.
Severe microcephaly v8.34 WARS Eleanor Williams Tag Q3_25_promote_green was removed from gene: WARS.
Severe microcephaly v8.34 TMEM167A Eleanor Williams Tag Q3_25_promote_green was removed from gene: TMEM167A.
Severe microcephaly v8.34 SPOUT1 Eleanor Williams Tag Q1_25_ promote_green was removed from gene: SPOUT1.
Severe microcephaly v8.34 PNPLA8 Eleanor Williams Tag Q1_25_ promote_green was removed from gene: PNPLA8.
Severe microcephaly v8.34 MRPL49 Eleanor Williams Tag Q2_25_ promote_green was removed from gene: MRPL49.
Childhood onset hereditary spastic paraplegia v8.33 SPTSSA Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: SPTSSA.
Severe microcephaly v8.34 LMNB2 Eleanor Williams Tag Q2_25_ MOI was removed from gene: LMNB2.
Severe microcephaly v8.34 INPP4A Eleanor Williams Tag Q3_25_promote_green was removed from gene: INPP4A.
Severe microcephaly v8.34 GTF3C3 Eleanor Williams Tag Q1_25_ promote_green was removed from gene: GTF3C3.
Severe microcephaly v8.34 FLVCR1 Eleanor Williams Tag Q3_25_promote_green was removed from gene: FLVCR1.
Severe microcephaly v8.34 EEF1D Eleanor Williams Tag Q2_25_ promote_green was removed from gene: EEF1D.
Tag Q2_25_ NHS_review was removed from gene: EEF1D.
Severe microcephaly v8.34 CRNKL1 Eleanor Williams Tag Q3_25_promote_green was removed from gene: CRNKL1.
Childhood onset hereditary spastic paraplegia v8.33 SPAST Achchuthan Shanmugasundram Tag Q1_25_ MOI was removed from gene: SPAST.
Childhood onset hereditary spastic paraplegia v8.33 TNR Achchuthan Shanmugasundram reviewed gene: TNR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v8.33 SPTSSA Achchuthan Shanmugasundram edited their review of gene: SPTSSA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Childhood onset hereditary spastic paraplegia v8.33 SPAST Achchuthan Shanmugasundram commented on gene: SPAST
Childhood onset hereditary spastic paraplegia v8.33 SOD1 Achchuthan Shanmugasundram reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v8.33 OGDHL Achchuthan Shanmugasundram reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v8.33 NOTCH3 Achchuthan Shanmugasundram commented on gene: NOTCH3: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v8.33 INPP4A Achchuthan Shanmugasundram commented on gene: INPP4A: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v8.33 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v8.33 EXOSC8 Achchuthan Shanmugasundram reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v8.33 BHLHE22 Achchuthan Shanmugasundram commented on gene: BHLHE22
Childhood onset hereditary spastic paraplegia v8.33 ATL1 Achchuthan Shanmugasundram commented on gene: ATL1: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v8.32 ATXN10_ATTCT Achchuthan Shanmugasundram reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v8.32 ATXN10_ATTCT Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from STR: ATXN10_ATTCT.
Tag Q2_25_expert_review was removed from STR: ATXN10_ATTCT.
Childhood onset hereditary spastic paraplegia v8.32 ATXN10_ATTCT Achchuthan Shanmugasundram Classified STR: ATXN10_ATTCT as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.32 ATXN10_ATTCT Achchuthan Shanmugasundram Str: atxn10_attct has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v8.31 TNR Achchuthan Shanmugasundram Source NHS GMS was added to TNR.
Source Expert Review Green was added to TNR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 SPTSSA Achchuthan Shanmugasundram Source NHS GMS was added to SPTSSA.
Source Expert Review Green was added to SPTSSA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 SPAST Achchuthan Shanmugasundram Mode of inheritance for gene SPAST was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v8.31 SOD1 Achchuthan Shanmugasundram Source NHS GMS was added to SOD1.
Source Expert Review Green was added to SOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 OGDHL Achchuthan Shanmugasundram Source NHS GMS was added to OGDHL.
Source Expert Review Green was added to OGDHL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 NOTCH3 Achchuthan Shanmugasundram Source Expert Review Green was added to NOTCH3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 INPP4A Achchuthan Shanmugasundram Source NHS GMS was added to INPP4A.
Source Expert Review Green was added to INPP4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 FLVCR1 Achchuthan Shanmugasundram Source NHS GMS was added to FLVCR1.
Source Expert Review Green was added to FLVCR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 EXOSC8 Achchuthan Shanmugasundram Source NHS GMS was added to EXOSC8.
Source Expert Review Green was added to EXOSC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v8.31 ATL1 Achchuthan Shanmugasundram Mode of inheritance for gene ATL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe microcephaly v8.34 WARS Eleanor Williams commented on gene: WARS: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe microcephaly v8.34 TMEM167A Eleanor Williams reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.34 SPOUT1 Eleanor Williams reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.34 PNPLA8 Eleanor Williams reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.34 MRPL49 Eleanor Williams reviewed gene: MRPL49: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.34 LMNB2 Eleanor Williams commented on gene: LMNB2
Severe microcephaly v8.34 INPP4A Eleanor Williams reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.34 GTF3C3 Eleanor Williams reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.34 FLVCR1 Eleanor Williams commented on gene: FLVCR1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe microcephaly v8.34 EEF1D Eleanor Williams reviewed gene: EEF1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.34 CRNKL1 Eleanor Williams reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v8.33 WARS Eleanor Williams Source NHS GMS was added to WARS.
Source Expert Review Green was added to WARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 TMEM167A Eleanor Williams Source NHS GMS was added to TMEM167A.
Source Expert Review Green was added to TMEM167A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 SPOUT1 Eleanor Williams Source NHS GMS was added to SPOUT1.
Source Expert Review Green was added to SPOUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 PNPLA8 Eleanor Williams Source NHS GMS was added to PNPLA8.
Source Expert Review Green was added to PNPLA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 MRPL49 Eleanor Williams Source NHS GMS was added to MRPL49.
Source Expert Review Green was added to MRPL49.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 LMNB2 Eleanor Williams Source NHS GMS was added to LMNB2.
Mode of inheritance for gene LMNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe microcephaly v8.33 INPP4A Eleanor Williams Source NHS GMS was added to INPP4A.
Source Expert Review Green was added to INPP4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 GTF3C3 Eleanor Williams Source NHS GMS was added to GTF3C3.
Source Expert Review Green was added to GTF3C3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 FLVCR1 Eleanor Williams Source NHS GMS was added to FLVCR1.
Source Expert Review Green was added to FLVCR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 EEF1D Eleanor Williams Source NHS GMS was added to EEF1D.
Source Expert Review Green was added to EEF1D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v8.33 CRNKL1 Eleanor Williams Source NHS GMS was added to CRNKL1.
Source Expert Review Green was added to CRNKL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v5.17 POC5 Eleanor Williams Tag Q3_25_promote_green was removed from gene: POC5.
Rhabdomyolysis and metabolic muscle disorders v5.17 CASQ1 Eleanor Williams Tag Q3_25_promote_green was removed from gene: CASQ1.
Rhabdomyolysis and metabolic muscle disorders v5.17 ATP2A2 Eleanor Williams Tag Q1_25_ promote_green was removed from gene: ATP2A2.
Rhabdomyolysis and metabolic muscle disorders v5.17 ATP2A2 Eleanor Williams Mode of inheritance for gene: ATP2A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rhabdomyolysis and metabolic muscle disorders v5.16 AMPD1 Eleanor Williams Tag Q3_25_expert_review was removed from gene: AMPD1.
Tag Q3_25_demote_red was removed from gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v5.16 POC5 Eleanor Williams reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdomyolysis and metabolic muscle disorders v5.16 CASQ1 Eleanor Williams reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdomyolysis and metabolic muscle disorders v5.16 ATP2A2 Eleanor Williams reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdomyolysis and metabolic muscle disorders v5.16 AMPD1 Eleanor Williams edited their review of gene: AMPD1: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED
Rhabdomyolysis and metabolic muscle disorders v5.15 POC5 Eleanor Williams Source NHS GMS was added to POC5.
Source Expert Review Green was added to POC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v5.15 CASQ1 Eleanor Williams Source NHS GMS was added to CASQ1.
Source Expert Review Green was added to CASQ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v5.15 ATP2A2 Eleanor Williams Source NHS GMS was added to ATP2A2.
Source Expert Review Green was added to ATP2A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v5.15 AMPD1 Eleanor Williams Source Expert Review Red was added to AMPD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v8.98 PAX6 Eleanor Williams Tag Q3_25_promote_green was removed from gene: PAX6.
Tag Q3_25_expert_review was removed from gene: PAX6.
Tag to_be_confirmed_NHSE tag was added to gene: PAX6.
Retinal disorders v8.98 FRMD7 Eleanor Williams Tag Q3_25_promote_green was removed from gene: FRMD7.
Tag Q3_25_expert_review was removed from gene: FRMD7.
Tag to_be_confirmed_NHSE tag was added to gene: FRMD7.
Retinal disorders v8.98 VSX2 Eleanor Williams Tag Q3_25_promote_green was removed from gene: VSX2.
Retinal disorders v8.98 THRB Eleanor Williams Tag Q2_25_ promote_green was removed from gene: THRB.
Tag Q2_25_ NHS_review was removed from gene: THRB.
Hereditary ataxia with onset in adulthood v8.26 RAB3A Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: RAB3A.
Tag Q2_25_ NHS_review was removed from gene: RAB3A.
Hereditary ataxia with onset in adulthood v8.26 NPTX1 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: NPTX1.
Tag Q2_25_ NHS_review was removed from gene: NPTX1.
Hereditary ataxia with onset in adulthood v8.26 NEU1 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: NEU1.
Tag Q2_25_ NHS_review was removed from gene: NEU1.
Hereditary ataxia with onset in adulthood v8.26 MFSD8 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: MFSD8.
Hereditary ataxia with onset in adulthood v8.26 GDAP2 Arina Puzriakova Tag Q4_24_NHS_review was removed from gene: GDAP2.
Tag Q4_24_promote_green was removed from gene: GDAP2.
Retinal disorders v8.98 SPG11 Eleanor Williams Tag Q3_25_promote_green was removed from gene: SPG11.
Tag Q3_25_NHS_review was removed from gene: SPG11.
Hereditary ataxia with onset in adulthood v8.26 FAT2 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: FAT2.
Tag Q2_25_ NHS_review was removed from gene: FAT2.
Hereditary ataxia with onset in adulthood v8.26 SPR Arina Puzriakova Publications for gene: SPR were set to
Hereditary ataxia with onset in adulthood v8.25 SPR Arina Puzriakova Tag Q1_25_ MOI was removed from gene: SPR.
Tag Q1_25_ demote_red was removed from gene: SPR.
Tag Q1_25_ expert_review was removed from gene: SPR.
Retinal disorders v8.98 POC5 Eleanor Williams Tag Q3_25_promote_green was removed from gene: POC5.
Tag Q3_25_NHS_review was removed from gene: POC5.
Retinal disorders v8.98 IDH3G Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 11 March 2026
Retinal disorders v8.98 IDH3G Eleanor Williams Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa to Retinitis pigmentosa 99, OMIM:301148, retinitis pigmentosa 99, MONDO:0978291
Hereditary ataxia with onset in adulthood v8.25 EXOSC8 Arina Puzriakova Tag Q3_25_expert_review was removed from gene: EXOSC8.
Tag Q3_25_demote_red was removed from gene: EXOSC8.
Retinal disorders v8.97 IDH3G Eleanor Williams Tag Q1_25_ promote_green was removed from gene: IDH3G.
Retinal disorders v8.97 DHX38 Eleanor Williams Tag Q3_25_promote_green was removed from gene: DHX38.
Hereditary ataxia with onset in adulthood v8.25 SPR Achchuthan Shanmugasundram reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v8.25 RAB3A Achchuthan Shanmugasundram reviewed gene: RAB3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v8.25 NPTX1 Achchuthan Shanmugasundram commented on gene: NPTX1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v8.25 NEU1 Achchuthan Shanmugasundram reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v8.25 MFSD8 Achchuthan Shanmugasundram reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v8.25 GDAP2 Achchuthan Shanmugasundram reviewed gene: GDAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v8.25 FAT2 Achchuthan Shanmugasundram commented on gene: FAT2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v8.25 EXOSC8 Achchuthan Shanmugasundram reviewed gene: EXOSC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 C19orf44 Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: C19orf44.
Tag Q1_25_ promote_green was removed from gene: C19orf44.
Hereditary ataxia with onset in adulthood v8.24 SPR Arina Puzriakova Source Expert Review Red was added to SPR.
Mode of inheritance for gene SPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v8.24 RAB3A Arina Puzriakova Source NHS GMS was added to RAB3A.
Source Expert Review Green was added to RAB3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v8.24 NPTX1 Arina Puzriakova Source NHS GMS was added to NPTX1.
Source Expert Review Green was added to NPTX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v8.24 NEU1 Arina Puzriakova Source Expert Review Green was added to NEU1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v8.24 MFSD8 Arina Puzriakova Source Expert Review Green was added to MFSD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v8.24 GDAP2 Arina Puzriakova Source Expert Review Green was added to GDAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v8.24 FAT2 Arina Puzriakova Source NHS GMS was added to FAT2.
Source Expert Review Green was added to FAT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v8.24 EXOSC8 Arina Puzriakova Source Expert Review Red was added to EXOSC8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v8.97 AP5Z1 Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: AP5Z1.
Tag Q1_25_ promote_green was removed from gene: AP5Z1.
Retinal disorders v8.97 DYRK1A Eleanor Williams Tag Q3_25_promote_green was removed from gene: DYRK1A.
Tag Q3_25_NHS_review was removed from gene: DYRK1A.
Retinal disorders v8.97 RNU6-9 Eleanor Williams Tag Q3_25_promote_green was removed from gene: RNU6-9.
Retinal disorders v8.97 RNU6-8 Eleanor Williams Tag Q3_25_promote_green was removed from gene: RNU6-8.
Retinal disorders v8.97 RNU6-2 Eleanor Williams Tag Q3_25_promote_green was removed from gene: RNU6-2.
Retinal disorders v8.97 RNU6-1 Eleanor Williams Tag Q3_25_promote_green was removed from gene: RNU6-1.
Retinal disorders v8.97 RNU4-2 Eleanor Williams Tag Q3_25_promote_green was removed from gene: RNU4-2.
Retinal disorders v8.97 TBC1D32 Eleanor Williams Tag Q2_25_ promote_green was removed from gene: TBC1D32.
Early onset or syndromic epilepsy v8.139 WDR47 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: WDR47.
Early onset or syndromic epilepsy v8.139 UNC13A Arina Puzriakova Tag Q3_25_promote_green was removed from gene: UNC13A.
Retinal disorders v8.97 CYP2U1 Eleanor Williams Tag Q3_25_promote_green was removed from gene: CYP2U1.
Retinal disorders v8.97 UNC119 Eleanor Williams Tag Q3_25_expert_review was removed from gene: UNC119.
Tag Q3_25_demote_amber was removed from gene: UNC119.
Retinal disorders v8.97 SAG Eleanor Williams Tag Q3_25_MOI was removed from gene: SAG.
Retinal disorders v8.97 RLBP1 Eleanor Williams Tag Q3_25_MOI was removed from gene: RLBP1.
Retinal disorders v8.97 RDH5 Eleanor Williams Tag Q3_25_MOI was removed from gene: RDH5.
Retinal disorders v8.97 KIAA1549 Eleanor Williams Tag Q3_25_MOI was removed from gene: KIAA1549.
Early onset or syndromic epilepsy v8.139 UGGT1 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: UGGT1.
Early onset or syndromic epilepsy v8.139 UBR5 Arina Puzriakova Tag dd_review was removed from gene: UBR5.
Tag Q3_25_promote_green was removed from gene: UBR5.
Early onset or syndromic epilepsy v8.139 TRPM7 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: TRPM7.
Early onset or syndromic epilepsy v8.139 TMEM167A Arina Puzriakova Tag Q3_25_promote_green was removed from gene: TMEM167A.
Early onset or syndromic epilepsy v8.139 TARS2 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: TARS2.
Early onset or syndromic epilepsy v8.139 SPOUT1 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: SPOUT1.
Early onset or syndromic epilepsy v8.139 RYR3 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: RYR3.
Early onset or syndromic epilepsy v8.139 RNU5B-1 Arina Puzriakova Tag dd_review was removed from gene: RNU5B-1.
Tag Q3_25_promote_green was removed from gene: RNU5B-1.
Early onset or syndromic epilepsy v8.139 RNU2-2P Arina Puzriakova Tag dd_review was removed from gene: RNU2-2P.
Tag Q2_25_ promote_green was removed from gene: RNU2-2P.
Early onset or syndromic epilepsy v8.139 PPP2R5C Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: PPP2R5C.
Early onset or syndromic epilepsy v8.139 PPP2R2B Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: PPP2R2B.
Early onset or syndromic epilepsy v8.139 PPOX Arina Puzriakova Tag Q3_25_promote_green was removed from gene: PPOX.
Early onset or syndromic epilepsy v8.139 PNPLA8 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: PNPLA8.
Early onset or syndromic epilepsy v8.139 PABPC1 Arina Puzriakova Tag Q4_24_MOI was removed from gene: PABPC1.
Early onset or syndromic epilepsy v8.139 NOTCH3 Arina Puzriakova Tag dd_review was removed from gene: NOTCH3.
Tag Q3_25_promote_green was removed from gene: NOTCH3.
Early onset or syndromic epilepsy v8.139 MT-TK Arina Puzriakova Tag Q3_25_promote_green was removed from gene: MT-TK.
Tag Q3_25_NHS_review was removed from gene: MT-TK.
Early onset or syndromic epilepsy v8.139 MARK2 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: MARK2.
Early onset or syndromic epilepsy v8.139 LSS Arina Puzriakova Tag Q3_25_promote_green was removed from gene: LSS.
Early onset or syndromic epilepsy v8.139 LGI1 Arina Puzriakova Tag Q3_25_MOI was removed from gene: LGI1.
Early onset or syndromic epilepsy v8.139 LAMC3 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: LAMC3.
Early onset or syndromic epilepsy v8.139 KCND3 Arina Puzriakova Tag dd_review was removed from gene: KCND3.
Tag Q3_25_promote_green was removed from gene: KCND3.
Early onset or syndromic epilepsy v8.139 INPP4A Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: INPP4A.
Intellectual disability v9.297 GTF3C3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 11-03-2026
Intellectual disability v9.297 GTF3C3 Arina Puzriakova Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
Severe microcephaly v8.32 GTF3C3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 11-03-2026
Severe microcephaly v8.32 GTF3C3 Arina Puzriakova Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
Early onset or syndromic epilepsy v8.139 GTF3C3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 11-03-2026
Early onset or syndromic epilepsy v8.139 GTF3C3 Arina Puzriakova Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
Early onset or syndromic epilepsy v8.138 GTF3C3 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: GTF3C3.
Early onset or syndromic epilepsy v8.138 GLS Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: GLS.
Early onset or syndromic epilepsy v8.138 FLVCR1 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: FLVCR1.
Early onset or syndromic epilepsy v8.138 EPB41L3 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: EPB41L3.
Tag Q2_25_ NHS_review was removed from gene: EPB41L3.
Early onset or syndromic epilepsy v8.138 ELFN1 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: ELFN1.
Early onset or syndromic epilepsy v8.138 EEFSEC Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: EEFSEC.
Early onset or syndromic epilepsy v8.138 CTSF Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: CTSF.
Early onset or syndromic epilepsy v8.138 CRNKL1 Arina Puzriakova Mode of pathogenicity for gene: CRNKL1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v8.137 CRNKL1 Arina Puzriakova Tag dd_review was removed from gene: CRNKL1.
Tag Q3_25_promote_green was removed from gene: CRNKL1.
Early onset or syndromic epilepsy v8.137 CRELD1 Arina Puzriakova Tag Q4_24_NHS_review was removed from gene: CRELD1.
Tag Q4_24_MOI was removed from gene: CRELD1.
Early onset or syndromic epilepsy v8.137 CELF4 Arina Puzriakova Tag dd_review was removed from gene: CELF4.
Tag Q2_25_ promote_green was removed from gene: CELF4.
Early onset or syndromic epilepsy v8.137 RYR3 Achchuthan Shanmugasundram edited their review of gene: RYR3: Added comment: Additional comments from reviewing GLHs: Insufficient evidence to prove a monogenic cause of epilepsy. Larger cohort size analysis required to conclusively prove this gene / variants in this gene could act as a susceptibility gene for idiopathic partial epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v8.137 CELF4 Achchuthan Shanmugasundram edited their review of gene: CELF4: Added comment: Additional comments from reviewing GLHs: gnomad data would make this difficult to classify variants (gnomADv4.1.0 pLI score). All ClinVar variants are VUS.; Changed rating: AMBER
Early onset or syndromic epilepsy v8.136 CDK5 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: CDK5.
Early onset or syndromic epilepsy v8.136 C12orf66 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: C12orf66.
Early onset or syndromic epilepsy v8.136 BRSK1 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: BRSK1.
Early onset or syndromic epilepsy v8.136 BRSK1 Arina Puzriakova Classified gene: BRSK1 as Green List (high evidence)
Early onset or syndromic epilepsy v8.136 BRSK1 Arina Puzriakova Gene: brsk1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v8.135 BRSK1 Arina Puzriakova Classified gene: BRSK1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.135 BRSK1 Arina Puzriakova Gene: brsk1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.134 WDR47 Achchuthan Shanmugasundram commented on gene: WDR47: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 UNC13A Achchuthan Shanmugasundram commented on gene: UNC13A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 UGGT1 Achchuthan Shanmugasundram commented on gene: UGGT1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 UBR5 Achchuthan Shanmugasundram commented on gene: UBR5: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 TRPM7 Achchuthan Shanmugasundram reviewed gene: TRPM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 TMEM167A Achchuthan Shanmugasundram reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 TARS2 Achchuthan Shanmugasundram reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 SPOUT1 Achchuthan Shanmugasundram reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 RYR3 Achchuthan Shanmugasundram commented on gene: RYR3
Early onset or syndromic epilepsy v8.134 RNU5B-1 Achchuthan Shanmugasundram edited their review of gene: RNU5B-1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v8.134 RNU2-2P Achchuthan Shanmugasundram commented on gene: RNU2-2P: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 PPP2R5C Achchuthan Shanmugasundram reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 PPP2R2B Achchuthan Shanmugasundram reviewed gene: PPP2R2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 PPOX Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 PNPLA8 Achchuthan Shanmugasundram reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 PABPC1 Achchuthan Shanmugasundram commented on gene: PABPC1: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 NOTCH3 Achchuthan Shanmugasundram commented on gene: NOTCH3: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 MT-TK Achchuthan Shanmugasundram reviewed gene: MT-TK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 MARK2 Achchuthan Shanmugasundram commented on gene: MARK2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 LSS Achchuthan Shanmugasundram commented on gene: LSS: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 LGI1 Achchuthan Shanmugasundram commented on gene: LGI1
Early onset or syndromic epilepsy v8.134 LAMC3 Achchuthan Shanmugasundram commented on gene: LAMC3: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 KCND3 Achchuthan Shanmugasundram reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 INPP4A Achchuthan Shanmugasundram commented on gene: INPP4A: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 GTF3C3 Achchuthan Shanmugasundram reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 GLS Achchuthan Shanmugasundram commented on gene: GLS: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 EPB41L3 Achchuthan Shanmugasundram reviewed gene: EPB41L3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 ELFN1 Achchuthan Shanmugasundram reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 EEFSEC Achchuthan Shanmugasundram commented on gene: EEFSEC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 CTSF Achchuthan Shanmugasundram reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 CRNKL1 Achchuthan Shanmugasundram commented on gene: CRNKL1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 CRELD1 Achchuthan Shanmugasundram commented on gene: CRELD1
Early onset or syndromic epilepsy v8.134 CELF4 Achchuthan Shanmugasundram commented on gene: CELF4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.
Early onset or syndromic epilepsy v8.134 CDK5 Achchuthan Shanmugasundram reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 C12orf66 Achchuthan Shanmugasundram reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 BRSK1 Achchuthan Shanmugasundram reviewed gene: BRSK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v8.134 WDR47 Arina Puzriakova Source NHS GMS was added to WDR47.
Source Expert Review Green was added to WDR47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 UNC13A Arina Puzriakova Source NHS GMS was added to UNC13A.
Source Expert Review Green was added to UNC13A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 UGGT1 Arina Puzriakova Source NHS GMS was added to UGGT1.
Source Expert Review Green was added to UGGT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 UBR5 Arina Puzriakova Source NHS GMS was added to UBR5.
Source Expert Review Green was added to UBR5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 TRPM7 Arina Puzriakova Source NHS GMS was added to TRPM7.
Source Expert Review Green was added to TRPM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 TMEM167A Arina Puzriakova Source NHS GMS was added to TMEM167A.
Source Expert Review Green was added to TMEM167A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 TARS2 Arina Puzriakova Source NHS GMS was added to TARS2.
Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 SPOUT1 Arina Puzriakova Source NHS GMS was added to SPOUT1.
Source Expert Review Green was added to SPOUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 RNU5B-1 Arina Puzriakova Source NHS GMS was added to RNU5B-1.
Source Expert Review Green was added to RNU5B-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 RNU2-2P Arina Puzriakova Source NHS GMS was added to RNU2-2P.
Source Expert Review Green was added to RNU2-2P.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 PPP2R5C Arina Puzriakova Source NHS GMS was added to PPP2R5C.
Source Expert Review Green was added to PPP2R5C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 PPP2R2B Arina Puzriakova Source NHS GMS was added to PPP2R2B.
Source Expert Review Green was added to PPP2R2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 PPOX Arina Puzriakova Source NHS GMS was added to PPOX.
Source Expert Review Green was added to PPOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 PNPLA8 Arina Puzriakova Source NHS GMS was added to PNPLA8.
Source Expert Review Green was added to PNPLA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 PABPC1 Arina Puzriakova Mode of inheritance for gene PABPC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v8.134 NOTCH3 Arina Puzriakova Source NHS GMS was added to NOTCH3.
Source Expert Review Green was added to NOTCH3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 MT-TK Arina Puzriakova Source NHS GMS was added to MT-TK.
Source Expert Review Green was added to MT-TK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 MARK2 Arina Puzriakova Source Expert Review Green was added to MARK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 LSS Arina Puzriakova Source Expert Review Green was added to LSS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 LGI1 Arina Puzriakova Mode of inheritance for gene LGI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v8.134 LAMC3 Arina Puzriakova Source NHS GMS was added to LAMC3.
Source Expert Review Green was added to LAMC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 KCND3 Arina Puzriakova Source NHS GMS was added to KCND3.
Source Expert Review Green was added to KCND3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 INPP4A Arina Puzriakova Source NHS GMS was added to INPP4A.
Source Expert Review Green was added to INPP4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 GTF3C3 Arina Puzriakova Source NHS GMS was added to GTF3C3.
Source Expert Review Green was added to GTF3C3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 GLS Arina Puzriakova Source NHS GMS was added to GLS.
Source Expert Review Green was added to GLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 FLVCR1 Arina Puzriakova Source NHS GMS was added to FLVCR1.
Source Expert Review Green was added to FLVCR1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 EPB41L3 Arina Puzriakova Source NHS GMS was added to EPB41L3.
Source Expert Review Green was added to EPB41L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 ELFN1 Arina Puzriakova Source NHS GMS was added to ELFN1.
Source Expert Review Green was added to ELFN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 EEFSEC Arina Puzriakova Source NHS GMS was added to EEFSEC.
Source Expert Review Green was added to EEFSEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 CTSF Arina Puzriakova Source Expert Review Green was added to CTSF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 CRNKL1 Arina Puzriakova Source NHS GMS was added to CRNKL1.
Source Expert Review Green was added to CRNKL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 CRELD1 Arina Puzriakova Mode of inheritance for gene CRELD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v8.134 CDK5 Arina Puzriakova Source NHS GMS was added to CDK5.
Source Expert Review Green was added to CDK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 C12orf66 Arina Puzriakova Source NHS GMS was added to C12orf66.
Source Expert Review Green was added to C12orf66.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.134 BRSK1 Arina Puzriakova Source NHS GMS was added to BRSK1.
Source Expert Review Green was added to BRSK1.
Mode of inheritance for gene BRSK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Distal myopathies v6.18 TIA1 Arina Puzriakova Tag Q3_25_MOI was removed from gene: TIA1.
Distal myopathies v6.18 NEB Arina Puzriakova Tag dd_review was removed from gene: NEB.
Tag Q3_25_MOI was removed from gene: NEB.
Distal myopathies v6.18 TIA1 Achchuthan Shanmugasundram commented on gene: TIA1
Distal myopathies v6.18 NEB Achchuthan Shanmugasundram commented on gene: NEB: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Distal myopathies v6.17 TIA1 Arina Puzriakova Source NHS GMS was added to TIA1.
Mode of inheritance for gene TIA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Distal myopathies v6.17 NEB Arina Puzriakova Source NHS GMS was added to NEB.
Mode of inheritance for gene NEB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Clefting v6.22 SIX5 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: SIX5.
Tag Q3_25_demote_red was removed from gene: SIX5.
Clefting v6.22 MED16 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MED16.
Clefting v6.22 CTGF Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CTGF.
Clefting v6.22 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v6.22 MED16 Achchuthan Shanmugasundram commented on gene: MED16: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Clefting v6.22 CTGF Achchuthan Shanmugasundram reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v6.21 SIX5 Achchuthan Shanmugasundram Source NHS GMS was added to SIX5.
Source Expert Review Red was added to SIX5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Clefting v6.21 MED16 Achchuthan Shanmugasundram Source NHS GMS was added to MED16.
Source Expert Review Green was added to MED16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v6.21 CTGF Achchuthan Shanmugasundram Source NHS GMS was added to CTGF.
Source Expert Review Green was added to CTGF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v7.15 CACNB4 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: CACNB4.
Tag Q3_25_expert_review was removed from gene: CACNB4.
Tag Q3_25_demote_red was removed from gene: CACNB4.
Childhood onset dystonia, chorea or related movement disorder v7.15 TNR Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: TNR.
Childhood onset dystonia, chorea or related movement disorder v7.15 PDE1B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PDE1B.
Childhood onset dystonia, chorea or related movement disorder v7.15 ADCY5 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: ADCY5.
Cystic kidney disease v8.8 CYP24A1 Arina Puzriakova Publications for gene: CYP24A1 were set to 34307984; 22337913; 27105398; 28324001
Childhood onset dystonia, chorea or related movement disorder v7.15 SPR Achchuthan Shanmugasundram Tag Q1_25_ MOI was removed from gene: SPR.
Tag watchlist_moi was removed from gene: SPR.
Cystic kidney disease v8.7 CYP24A1 Arina Puzriakova Tag Q1_26_MOI was removed from gene: CYP24A1.
Childhood onset dystonia, chorea or related movement disorder v7.15 TNR Achchuthan Shanmugasundram reviewed gene: TNR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v7.15 SPR Achchuthan Shanmugasundram commented on gene: SPR
Childhood onset dystonia, chorea or related movement disorder v7.15 PDE1B Achchuthan Shanmugasundram commented on gene: PDE1B: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v7.15 CACNB4 Achchuthan Shanmugasundram commented on gene: CACNB4: The rating of this gene has been updated to red and the mode of inheritance updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v7.15 ADCY5 Achchuthan Shanmugasundram commented on gene: ADCY5: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Cystic kidney disease v8.7 CFAP47 Arina Puzriakova Tag Q4_24_promote_green was removed from gene: CFAP47.
Childhood onset dystonia, chorea or related movement disorder v7.14 TNR Achchuthan Shanmugasundram Source NHS GMS was added to TNR.
Source Expert Review Green was added to TNR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v7.14 SPR Achchuthan Shanmugasundram Source NHS GMS was added to SPR.
Mode of inheritance for gene SPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v7.14 PDE1B Achchuthan Shanmugasundram Source NHS GMS was added to PDE1B.
Source Expert Review Green was added to PDE1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v7.14 CACNB4 Achchuthan Shanmugasundram Source Expert Review Red was added to CACNB4.
Mode of inheritance for gene CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia, chorea or related movement disorder v7.14 ADCY5 Achchuthan Shanmugasundram Source NHS GMS was added to ADCY5.
Mode of inheritance for gene ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cystic kidney disease v8.7 CYP24A1 Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v8.7 CFAP47 Achchuthan Shanmugasundram commented on gene: CFAP47: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Cystic kidney disease v8.6 CYP24A1 Arina Puzriakova Mode of inheritance for gene CYP24A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v8.6 CFAP47 Arina Puzriakova Source NHS GMS was added to CFAP47.
Source Expert Review Green was added to CFAP47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cardiac arrhythmias - additional genes v3.9 TANGO2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: TANGO2.
Tag Q3_25_expert_review was removed from gene: TANGO2.
Cardiac arrhythmias - additional genes v3.9 TANGO2 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers note as follows: TANGO2 causes an AR multi-system metabolic disorder, of which cardiac arrhythmia is not the presenting phenotype. It can be a feature when patients are in metabolic crisis. It is not appropriate to include genes associated with multi-system/syndromic disorders where cardiac arrhythmia may be a feature. TANGO2 is more appropriate for the panels it is already on.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.

The GMS reviewers note as follows:
TANGO2 causes an AR multi-system metabolic disorder, of which cardiac arrhythmia is not the presenting phenotype. It can be a feature when patients are in metabolic crisis. It is not appropriate to include genes associated with multi-system/syndromic disorders where cardiac arrhythmia may be a feature. TANGO2 is more appropriate for the panels it is already on.
Cardiac arrhythmias - additional genes v3.9 TANGO2 Achchuthan Shanmugasundram edited their review of gene: TANGO2: Changed rating: AMBER
Cardiac arrhythmias - additional genes v3.9 TANGO2 Achchuthan Shanmugasundram commented on gene: TANGO2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers note as follows: TANGO2 causes an AR multi-system metabolic disorder, of which cardiac arrhythmia is not the presenting phenotype. It can be a feature when patients are in metabolic crisis. It is not appropriate to include genes associated with multi-system/syndromic disorders where cardiac arrhythmia may be a feature. TANGO2 is more appropriate for the panels it is already on.
Paediatric or syndromic cardiomyopathy v7.98 MT-TV Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-TV.
Tag Q2_25_expert_review was removed from gene: MT-TV.
Paediatric or syndromic cardiomyopathy v7.98 MT-TL1 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-TL1.
Tag Q2_25_expert_review was removed from gene: MT-TL1.
Paediatric or syndromic cardiomyopathy v7.98 TANGO2 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: TANGO2.
Paediatric or syndromic cardiomyopathy v7.98 SGCG Ida Ertmanska Tag Q3_25_promote_green was removed from gene: SGCG.
Paediatric or syndromic cardiomyopathy v7.98 RPL3L Ida Ertmanska Tag Q3_25_promote_green was removed from gene: RPL3L.
Tag Q3_25_expert_review was removed from gene: RPL3L.
Tag Q3_25_NHS_review was removed from gene: RPL3L.
Paediatric or syndromic cardiomyopathy v7.98 PKD2 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: PKD2.
Paediatric or syndromic cardiomyopathy v7.98 NF1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: NF1.
Paediatric or syndromic cardiomyopathy v7.98 NAXD Ida Ertmanska Tag Q3_25_promote_green was removed from gene: NAXD.
Paediatric or syndromic cardiomyopathy v7.98 MTO1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: MTO1.
Congenital disorders of glycosylation v7.15 MAN2B2 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: MAN2B2.
Tag Q2_25_ NHS_review was removed from gene: MAN2B2.
Paediatric or syndromic cardiomyopathy v7.98 KLHL24 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: KLHL24.
Congenital disorders of glycosylation v7.15 UGGT1 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: UGGT1.
Tag Q3_25_NHS_review was removed from gene: UGGT1.
Paediatric or syndromic cardiomyopathy v7.98 GLA Ida Ertmanska Tag Q3_25_promote_green was removed from gene: GLA.
Paediatric or syndromic cardiomyopathy v7.98 FLII Ida Ertmanska Tag Q3_25_promote_green was removed from gene: FLII.
Paediatric or syndromic cardiomyopathy v7.98 FBXL4 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: FBXL4.
Paediatric or syndromic cardiomyopathy v7.98 DST Ida Ertmanska Tag Q3_25_promote_green was removed from gene: DST.
Paediatric or syndromic cardiomyopathy v7.98 ATAD3A Ida Ertmanska Tag Q3_25_promote_green was removed from gene: ATAD3A.
Paediatric or syndromic cardiomyopathy v7.98 AIFM1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: AIFM1.
Breast cancer pertinent cancer susceptibility v2.17 PTEN Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: PTEN.
Tag Q2_25_expert_review was removed from gene: PTEN.
Paediatric or syndromic cardiomyopathy v7.98 ADSSL1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: ADSSL1.
Breast cancer pertinent cancer susceptibility v2.17 PTEN Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains red. The GMS reviewers note that there are no clinical guidelines to manage the findings.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers note that there are no clinical guidelines to manage the findings.
Breast cancer pertinent cancer susceptibility v2.17 PTEN Achchuthan Shanmugasundram commented on gene: PTEN
Paediatric or syndromic cardiomyopathy v7.98 MT-ND5 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-ND5.
Tag Q3_25_expert_review was removed from gene: MT-ND5.
Tag Q3_25_NHS_review was removed from gene: MT-ND5.
Paediatric or syndromic cardiomyopathy v7.98 TANGO2 Ida Ertmanska reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 SGCG Ida Ertmanska reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 RPL3L Ida Ertmanska reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 PKD2 Ida Ertmanska reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 NF1 Ida Ertmanska reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 NAXD Ida Ertmanska reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 MTO1 Ida Ertmanska reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 MT-TV Ida Ertmanska commented on gene: MT-TV
Paediatric or syndromic cardiomyopathy v7.98 MT-TL1 Ida Ertmanska commented on gene: MT-TL1
Paediatric or syndromic cardiomyopathy v7.98 MT-ND5 Ida Ertmanska commented on gene: MT-ND5
Paediatric or syndromic cardiomyopathy v7.98 KLHL24 Ida Ertmanska reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 GLA Ida Ertmanska reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 FLII Ida Ertmanska reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 FBXL4 Ida Ertmanska reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 DST Ida Ertmanska reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 ATAD3A Ida Ertmanska reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 AIFM1 Ida Ertmanska reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v7.98 ADSSL1 Ida Ertmanska reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Proteinuric renal disease v5.9 VIPAS39 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: VIPAS39.
Proteinuric renal disease v5.9 CD2AP Ida Ertmanska Tag Q3_25_promote_green was removed from gene: CD2AP.
Proteinuric renal disease v5.9 VIPAS39 Ida Ertmanska reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Proteinuric renal disease v5.9 CD2AP Ida Ertmanska commented on gene: CD2AP: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v7.8 HMBS Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: HMBS.
Proteinuric renal disease v5.8 VIPAS39 Ida Ertmanska Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v5.8 CD2AP Ida Ertmanska Source Expert Review Green was added to CD2AP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v7.8 HMBS Achchuthan Shanmugasundram reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 INO80 Ida Ertmanska Tag Q3_25_expert_review was removed from gene: INO80.
Tag Q3_25_demote_red was removed from gene: INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 TMEFF1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: TMEFF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 TBK1 Ida Ertmanska Tag Q2_25_ MOI was removed from gene: TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLCO2A1 Ida Ertmanska Tag Q2_25_ MOI was removed from gene: SLCO2A1.
Bilateral congenital or childhood onset cataracts v7.7 HMBS Achchuthan Shanmugasundram Source NHS GMS was added to HMBS.
Source Expert Review Green was added to HMBS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.67 EXOSC5 Achchuthan Shanmugasundram Tag Q4_24_NHS_review was removed from gene: EXOSC5.
Tag Q4_24_promote_green was removed from gene: EXOSC5.
Ataxia and cerebellar anomalies - narrow panel v8.67 PTRH2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTRH2.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC39A4 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: SLC39A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 IRF1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: IRF1.
Tag Q3_25_NHS_review was removed from gene: IRF1.
Ataxia and cerebellar anomalies - narrow panel v8.67 PDE1B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PDE1B.
Tag Q3_25_NHS_review was removed from gene: PDE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 IFNAR1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: IFNAR1.
Ataxia and cerebellar anomalies - narrow panel v8.67 INPP4A Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: INPP4A.
Ataxia and cerebellar anomalies - narrow panel v8.67 HEATR5B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: HEATR5B.
Tag Q3_25_expert_review was removed from gene: HEATR5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC30A2 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: SLC30A2.
Tag Q3_25_MOI was removed from gene: SLC30A2.
Tag Q3_25_expert_review was removed from gene: SLC30A2.
Ataxia and cerebellar anomalies - narrow panel v8.67 EXOSC8 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOSC8.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 TMEFF1 Ida Ertmanska reviewed gene: TMEFF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 TBK1 Ida Ertmanska commented on gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLCO2A1 Ida Ertmanska commented on gene: SLCO2A1
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC39A4 Ida Ertmanska reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC30A2 Ida Ertmanska commented on gene: SLC30A2
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 IRF1 Ida Ertmanska reviewed gene: IRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 INO80 Ida Ertmanska reviewed gene: INO80: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 IFNAR1 Ida Ertmanska reviewed gene: IFNAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 HSPA1L Ida Ertmanska reviewed gene: HSPA1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 ELF4 Ida Ertmanska commented on gene: ELF4
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 DPP9 Ida Ertmanska reviewed gene: DPP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 C2 Ida Ertmanska commented on gene: C2
Ataxia and cerebellar anomalies - narrow panel v8.67 CRNKL1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CRNKL1.
Ataxia and cerebellar anomalies - narrow panel v8.67 CDK5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CDK5.
Ataxia and cerebellar anomalies - narrow panel v8.67 RAB3A Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: RAB3A.
Tag Q2_25_ NHS_review was removed from gene: RAB3A.
Ataxia and cerebellar anomalies - narrow panel v8.67 NEU1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: NEU1.
Tag Q2_25_ NHS_review was removed from gene: NEU1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 ELF4 Ida Ertmanska Tag Q2_25_ MOI was removed from gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 DPP9 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: DPP9.
Tag Q3_25_NHS_review was removed from gene: DPP9.
Ataxia and cerebellar anomalies - narrow panel v8.67 MFSD8 Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: MFSD8.
Ataxia and cerebellar anomalies - narrow panel v8.67 FTH1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FTH1.
Tag Q1_25_ promote_green was removed from gene: FTH1.
Ataxia and cerebellar anomalies - narrow panel v8.67 EEFSEC Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: EEFSEC.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 C2 Ida Ertmanska Tag Q2_25_ MOI was removed from gene: C2.
Ataxia and cerebellar anomalies - narrow panel v8.67 RAB3A Achchuthan Shanmugasundram reviewed gene: RAB3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v8.67 PTRH2 Achchuthan Shanmugasundram commented on gene: PTRH2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - narrow panel v8.67 PDE1B Achchuthan Shanmugasundram commented on gene: PDE1B: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - narrow panel v8.67 NEU1 Achchuthan Shanmugasundram reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v8.67 MFSD8 Achchuthan Shanmugasundram reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v8.67 INPP4A Achchuthan Shanmugasundram commented on gene: INPP4A: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - narrow panel v8.67 HEATR5B Achchuthan Shanmugasundram reviewed gene: HEATR5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v8.67 FTH1 Achchuthan Shanmugasundram reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v8.67 EXOSC8 Achchuthan Shanmugasundram reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v8.67 EXOSC5 Achchuthan Shanmugasundram reviewed gene: EXOSC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v8.67 EEFSEC Achchuthan Shanmugasundram commented on gene: EEFSEC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - narrow panel v8.67 CRNKL1 Achchuthan Shanmugasundram commented on gene: CRNKL1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - narrow panel v8.67 CDK5 Achchuthan Shanmugasundram reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 HSPA1L Ida Ertmanska Tag Q3_25_expert_review was removed from gene: HSPA1L.
Tag Q3_25_demote_amber was removed from gene: HSPA1L.
Ataxia and cerebellar anomalies - narrow panel v8.66 CACNA1A_CAG Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from STR: CACNA1A_CAG.
Tag Q2_25_expert_review was removed from STR: CACNA1A_CAG.
Ataxia and cerebellar anomalies - narrow panel v8.66 CACNA1A_CAG Achchuthan Shanmugasundram reviewed STR: CACNA1A_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from STR: ATXN10_ATTCT.
Tag Q2_25_expert_review was removed from STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram Classified STR: ATXN10_ATTCT as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram Str: atxn10_attct has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v8.65 RAB3A Achchuthan Shanmugasundram Source NHS GMS was added to RAB3A.
Source Expert Review Green was added to RAB3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 PTRH2 Achchuthan Shanmugasundram Source NHS GMS was added to PTRH2.
Source Expert Review Green was added to PTRH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 PDE1B Achchuthan Shanmugasundram Source NHS GMS was added to PDE1B.
Source Expert Review Green was added to PDE1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 NEU1 Achchuthan Shanmugasundram Source Expert Review Green was added to NEU1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 MFSD8 Achchuthan Shanmugasundram Source Expert Review Green was added to MFSD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 INPP4A Achchuthan Shanmugasundram Source NHS GMS was added to INPP4A.
Source Expert Review Green was added to INPP4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 HEATR5B Achchuthan Shanmugasundram Source NHS GMS was added to HEATR5B.
Source Expert Review Green was added to HEATR5B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 FTH1 Achchuthan Shanmugasundram Source Expert Review Green was added to FTH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 EXOSC8 Achchuthan Shanmugasundram Source NHS GMS was added to EXOSC8.
Source Expert Review Green was added to EXOSC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 EXOSC5 Achchuthan Shanmugasundram Source NHS GMS was added to EXOSC5.
Source Expert Review Green was added to EXOSC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 EEFSEC Achchuthan Shanmugasundram Source NHS GMS was added to EEFSEC.
Source Expert Review Green was added to EEFSEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 CRNKL1 Achchuthan Shanmugasundram Source NHS GMS was added to CRNKL1.
Source Expert Review Green was added to CRNKL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.65 CDK5 Achchuthan Shanmugasundram Source NHS GMS was added to CDK5.
Source Expert Review Green was added to CDK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 TMEFF1 Ida Ertmanska Source NHS GMS was added to TMEFF1.
Source Expert Review Green was added to TMEFF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 TBK1 Ida Ertmanska Mode of inheritance for gene TBK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 SLCO2A1 Ida Ertmanska Source NHS GMS was added to SLCO2A1.
Mode of inheritance for gene SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 SLC39A4 Ida Ertmanska Source Expert Review Green was added to SLC39A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 IRF1 Ida Ertmanska Source NHS GMS was added to IRF1.
Source Expert Review Green was added to IRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 INO80 Ida Ertmanska Source Expert Review Red was added to INO80.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 IFNAR1 Ida Ertmanska Source NHS GMS was added to IFNAR1.
Source Expert Review Green was added to IFNAR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 HSPA1L Ida Ertmanska Source Expert Review Amber was added to HSPA1L.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 ELF4 Ida Ertmanska Source NHS GMS was added to ELF4.
Mode of inheritance for gene ELF4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 DPP9 Ida Ertmanska Source NHS GMS was added to DPP9.
Source Expert Review Green was added to DPP9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 C2 Ida Ertmanska Mode of inheritance for gene C2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v7.97 TANGO2 Ida Ertmanska Source NHS GMS was added to TANGO2.
Source Expert Review Green was added to TANGO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 SGCG Ida Ertmanska Source NHS GMS was added to SGCG.
Source Expert Review Green was added to SGCG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 RPL3L Ida Ertmanska Source NHS GMS was added to RPL3L.
Source Expert Review Green was added to RPL3L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 PKD2 Ida Ertmanska Source NHS GMS was added to PKD2.
Source Expert Review Green was added to PKD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 NF1 Ida Ertmanska Source Expert Review Green was added to NF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 NAXD Ida Ertmanska Source NHS GMS was added to NAXD.
Source Expert Review Green was added to NAXD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 MTO1 Ida Ertmanska Source NHS GMS was added to MTO1.
Source Expert Review Green was added to MTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 KLHL24 Ida Ertmanska Source NHS GMS was added to KLHL24.
Source Expert Review Green was added to KLHL24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 GLA Ida Ertmanska Source Expert Review Green was added to GLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 FLII Ida Ertmanska Source NHS GMS was added to FLII.
Source Expert Review Green was added to FLII.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 FBXL4 Ida Ertmanska Source NHS GMS was added to FBXL4.
Source Expert Review Green was added to FBXL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 DST Ida Ertmanska Source NHS GMS was added to DST.
Source Expert Review Green was added to DST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 ATAD3A Ida Ertmanska Source NHS GMS was added to ATAD3A.
Source Expert Review Green was added to ATAD3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 AIFM1 Ida Ertmanska Source NHS GMS was added to AIFM1.
Source Expert Review Green was added to AIFM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v7.97 ADSSL1 Ida Ertmanska Source NHS GMS was added to ADSSL1.
Source Expert Review Green was added to ADSSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.33 IGFALS Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: IGFALS.
Tag Q2_25_ NHS_review was removed from gene: IGFALS.
Paediatric disorders - additional genes v7.33 PLD1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: PLD1.
Tag Q3_25_expert_review was removed from gene: PLD1.
Paediatric disorders - additional genes v7.33 RBFOX2 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: RBFOX2.
Paediatric disorders - additional genes v7.33 PLAG1 Ida Ertmanska Tag Q1_25_ NHS_review was removed from gene: PLAG1.
Tag Q1_25_ promote_green was removed from gene: PLAG1.
Paediatric disorders - additional genes v7.33 MC4R Ida Ertmanska Tag Q3_25_promote_green was removed from gene: MC4R.
Tag Q3_25_NHS_review was removed from gene: MC4R.
Paediatric disorders - additional genes v7.33 ISL1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: ISL1.
Paediatric disorders - additional genes v7.33 HMGA2 Ida Ertmanska Tag Q1_25_ NHS_review was removed from gene: HMGA2.
Tag Q1_25_ promote_green was removed from gene: HMGA2.
Paediatric disorders - additional genes v7.33 GPKOW Ida Ertmanska Tag Q3_25_promote_green was removed from gene: GPKOW.
Retinal disorders v8.97 PAX6 Eleanor Williams commented on gene: PAX6
Retinal disorders v8.97 FRMD7 Eleanor Williams commented on gene: FRMD7
Retinal disorders v8.97 VSX2 Eleanor Williams reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 THRB Eleanor Williams reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 SPG11 Eleanor Williams reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 POC5 Eleanor Williams reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 IDH3G Eleanor Williams reviewed gene: IDH3G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 DHX38 Eleanor Williams reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 C19orf44 Eleanor Williams reviewed gene: C19orf44: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 AP5Z1 Eleanor Williams reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 AP5M1 Eleanor Williams reviewed gene: AP5M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 DYRK1A Eleanor Williams reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 RNU6-9 Eleanor Williams reviewed gene: RNU6-9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 RNU6-8 Eleanor Williams reviewed gene: RNU6-8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 RNU6-2 Eleanor Williams reviewed gene: RNU6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 RNU6-1 Eleanor Williams reviewed gene: RNU6-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 RNU4-2 Eleanor Williams reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 TBC1D32 Eleanor Williams reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 CYP2U1 Eleanor Williams reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 UNC119 Eleanor Williams reviewed gene: UNC119: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v8.97 SAG Eleanor Williams commented on gene: SAG
Retinal disorders v8.97 RLBP1 Eleanor Williams commented on gene: RLBP1
Retinal disorders v8.97 RDH5 Eleanor Williams commented on gene: RDH5: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Retinal disorders v8.97 KIAA1549 Eleanor Williams commented on gene: KIAA1549
Retinal disorders v8.96 VSX2 Eleanor Williams Source Expert Review Green was added to VSX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 UNC119 Eleanor Williams Source Expert Review Amber was added to UNC119.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v8.96 THRB Eleanor Williams Source NHS GMS was added to THRB.
Source Expert Review Green was added to THRB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 TBC1D32 Eleanor Williams Source NHS GMS was added to TBC1D32.
Source Expert Review Green was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 SPG11 Eleanor Williams Source NHS GMS was added to SPG11.
Source Expert Review Green was added to SPG11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 SAG Eleanor Williams Mode of inheritance for gene SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v8.96 RNU6-9 Eleanor Williams Source NHS GMS was added to RNU6-9.
Source Expert Review Green was added to RNU6-9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 RNU6-8 Eleanor Williams Source NHS GMS was added to RNU6-8.
Source Expert Review Green was added to RNU6-8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 RNU6-2 Eleanor Williams Source NHS GMS was added to RNU6-2.
Source Expert Review Green was added to RNU6-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 RNU6-1 Eleanor Williams Source NHS GMS was added to RNU6-1.
Source Expert Review Green was added to RNU6-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 RNU4-2 Eleanor Williams Source NHS GMS was added to RNU4-2.
Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 RLBP1 Eleanor Williams Mode of inheritance for gene RLBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.96 RDH5 Eleanor Williams Mode of inheritance for gene RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.96 POC5 Eleanor Williams Source Expert Review Green was added to POC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 KIAA1549 Eleanor Williams Mode of inheritance for gene KIAA1549 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.96 IDH3G Eleanor Williams Source NHS GMS was added to IDH3G.
Source Expert Review Green was added to IDH3G.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 DYRK1A Eleanor Williams Source NHS GMS was added to DYRK1A.
Source Expert Review Green was added to DYRK1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 DHX38 Eleanor Williams Source Expert Review Green was added to DHX38.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 CYP2U1 Eleanor Williams Source NHS GMS was added to CYP2U1.
Source Expert Review Green was added to CYP2U1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 C19orf44 Eleanor Williams Source NHS GMS was added to C19orf44.
Source Expert Review Green was added to C19orf44.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 AP5Z1 Eleanor Williams Source NHS GMS was added to AP5Z1.
Source Expert Review Green was added to AP5Z1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v8.96 AP5M1 Eleanor Williams Source NHS GMS was added to AP5M1.
Source Expert Review Green was added to AP5M1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.33 ERCC1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: ERCC1.
Paediatric disorders - additional genes v7.33 CACHD1 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: CACHD1.
Paediatric disorders - additional genes v7.33 RBFOX2 Ida Ertmanska reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 PLD1 Ida Ertmanska reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 PLAG1 Ida Ertmanska reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 MC4R Ida Ertmanska reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 ISL1 Ida Ertmanska reviewed gene: ISL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 IGFALS Ida Ertmanska reviewed gene: IGFALS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 HMGA2 Ida Ertmanska reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 GPKOW Ida Ertmanska reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 ERCC1 Ida Ertmanska reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.33 CACHD1 Ida Ertmanska reviewed gene: CACHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v7.32 RBFOX2 Ida Ertmanska Source NHS GMS was added to RBFOX2.
Source Expert Review Green was added to RBFOX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 PLD1 Ida Ertmanska Source Expert Review Green was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 PLAG1 Ida Ertmanska Source Expert Review Green was added to PLAG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 MC4R Ida Ertmanska Source NHS GMS was added to MC4R.
Source Expert Review Green was added to MC4R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 ISL1 Ida Ertmanska Source NHS GMS was added to ISL1.
Source Expert Review Green was added to ISL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 IGFALS Ida Ertmanska Source Expert Review Green was added to IGFALS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 HMGA2 Ida Ertmanska Source Expert Review Green was added to HMGA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 GPKOW Ida Ertmanska Source NHS GMS was added to GPKOW.
Source Expert Review Green was added to GPKOW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 ERCC1 Ida Ertmanska Source NHS GMS was added to ERCC1.
Source Expert Review Green was added to ERCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v7.32 CACHD1 Ida Ertmanska Source NHS GMS was added to CACHD1.
Source Expert Review Green was added to CACHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v5.15 KIAA0556 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: KIAA0556.
Ophthalmological ciliopathies v5.15 POC5 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: POC5.
Ophthalmological ciliopathies v5.15 POC5 Ida Ertmanska reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ophthalmological ciliopathies v5.15 KIAA0556 Ida Ertmanska reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ophthalmological ciliopathies v5.14 POC5 Ida Ertmanska Source Expert Review Green was added to POC5.
Source NHS GMS was added to POC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v5.14 KIAA0556 Ida Ertmanska Source Expert Review Green was added to KIAA0556.
Source NHS GMS was added to KIAA0556.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v7.15 UGGT1 Achchuthan Shanmugasundram commented on gene: UGGT1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v7.15 MAN2B2 Achchuthan Shanmugasundram edited their review of gene: MAN2B2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Congenital disorders of glycosylation v7.14 UGGT1 Arina Puzriakova Source Expert Review Green was added to UGGT1.
Source NHS GMS was added to UGGT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v7.14 MAN2B2 Arina Puzriakova Source Expert Review Green was added to MAN2B2.
Source NHS GMS was added to MAN2B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v6.15 KIAA0556 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: KIAA0556.
Neurological ciliopathies v6.15 EVC2 Ida Ertmanska Tag Q3_25_MOI was removed from gene: EVC2.
Arthrogryposis v9.29 MYH3 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: MYH3.
Arthrogryposis v9.29 ERCC1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ERCC1.
Arthrogryposis v9.29 DST Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DST.
Arthrogryposis v9.29 MYH3 Achchuthan Shanmugasundram commented on gene: MYH3
Arthrogryposis v9.29 ERCC1 Achchuthan Shanmugasundram reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v9.29 DST Achchuthan Shanmugasundram reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v9.28 MYH3 Achchuthan Shanmugasundram Source NHS GMS was added to MYH3.
Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v9.28 ERCC1 Achchuthan Shanmugasundram Source NHS GMS was added to ERCC1.
Source Expert Review Green was added to ERCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v9.28 DST Achchuthan Shanmugasundram Source NHS GMS was added to DST.
Source Expert Review Green was added to DST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v8.16 SPTLC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPTLC2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset neurodegenerative disorder v8.15 SPTLC2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPTLC2.
Adult onset neurodegenerative disorder v8.15 SPTLC1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPTLC1.
Tag Q3_25_NHS_review was removed from gene: SPTLC1.
Neurological ciliopathies v6.15 KIAA0556 Ida Ertmanska reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurological ciliopathies v6.15 EVC2 Ida Ertmanska commented on gene: EVC2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v8.15 CST3 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: CST3.
Adult onset neurodegenerative disorder v8.15 CST3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewes note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder.
Adult onset neurodegenerative disorder v8.15 CST3 Achchuthan Shanmugasundram edited their review of gene: CST3: Changed rating: AMBER
Neurological ciliopathies v6.14 KIAA0556 Ida Ertmanska Source NHS GMS was added to KIAA0556.
Source Expert Review Green was added to KIAA0556.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v6.14 EVC2 Ida Ertmanska Source NHS GMS was added to EVC2.
Mode of inheritance for gene EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v8.15 POLG Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: POLG.
Neonatal diabetes v5.19 TMEM167A Ida Ertmanska Tag Q3_25_promote_green was removed from gene: TMEM167A.
Neonatal diabetes v5.19 TMEM167A Ida Ertmanska reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v5.18 TMEM167A Ida Ertmanska Source Expert Review Green was added to TMEM167A.
Source NHS GMS was added to TMEM167A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.43 TOMM7 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: TOMM7.
Mitochondrial disorders v9.43 SUPV3L1 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: SUPV3L1.
Mitochondrial disorders v9.43 SQOR Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: SQOR.
Mitochondrial disorders v9.43 PPOX Ida Ertmanska Tag Q3_25_MOI was removed from gene: PPOX.
Mitochondrial disorders v9.43 PDE12 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: PDE12.
Tag Q3_25_NHS_review was removed from gene: PDE12.
Mitochondrial disorders v9.43 NDUFB7 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: NDUFB7.
Mitochondrial disorders v9.43 MRPL49 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MRPL49.
Mitochondrial disorders v9.43 IDH1 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: IDH1.
Mitochondrial disorders v9.43 HSPA9 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: HSPA9.
Mitochondrial disorders v9.43 GUK1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: GUK1.
Tag Q3_25_NHS_review was removed from gene: GUK1.
Mitochondrial disorders v9.43 COX4I1 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: COX4I1.
Mitochondrial disorders v9.43 COX18 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: COX18.
Mitochondrial disorders v9.43 CMPK2 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: CMPK2.
Mitochondrial disorders v9.43 TOMM7 Ida Ertmanska reviewed gene: TOMM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 SUPV3L1 Ida Ertmanska reviewed gene: SUPV3L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 SQOR Ida Ertmanska reviewed gene: SQOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 PPOX Ida Ertmanska commented on gene: PPOX: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Mitochondrial disorders v9.43 PDE12 Ida Ertmanska reviewed gene: PDE12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 NDUFB7 Ida Ertmanska reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 MRPL49 Ida Ertmanska reviewed gene: MRPL49: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 IDH1 Ida Ertmanska reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 HSPA9 Ida Ertmanska reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 GUK1 Ida Ertmanska reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 COX4I1 Ida Ertmanska reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 COX18 Ida Ertmanska reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 CMPK2 Ida Ertmanska reviewed gene: CMPK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.43 BTD Ida Ertmanska reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.42 TOMM7 Ida Ertmanska Source NHS GMS was added to TOMM7.
Source Expert Review Green was added to TOMM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 SUPV3L1 Ida Ertmanska Source NHS GMS was added to SUPV3L1.
Source Expert Review Green was added to SUPV3L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 SQOR Ida Ertmanska Source NHS GMS was added to SQOR.
Source Expert Review Green was added to SQOR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 PPOX Ida Ertmanska Mode of inheritance for gene PPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disorders v9.42 PDE12 Ida Ertmanska Source NHS GMS was added to PDE12.
Source Expert Review Green was added to PDE12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 NDUFB7 Ida Ertmanska Source NHS GMS was added to NDUFB7.
Source Expert Review Green was added to NDUFB7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 MRPL49 Ida Ertmanska Source NHS GMS was added to MRPL49.
Source Expert Review Green was added to MRPL49.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 IDH1 Ida Ertmanska Source NHS GMS was added to IDH1.
Source Expert Review Green was added to IDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 HSPA9 Ida Ertmanska Source NHS GMS was added to HSPA9.
Source Expert Review Green was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 GUK1 Ida Ertmanska Source NHS GMS was added to GUK1.
Source Expert Review Green was added to GUK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 COX4I1 Ida Ertmanska Source NHS GMS was added to COX4I1.
Source Expert Review Green was added to COX4I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 COX18 Ida Ertmanska Source Expert Review Green was added to COX18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 CMPK2 Ida Ertmanska Source NHS GMS was added to CMPK2.
Source Expert Review Green was added to CMPK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v9.42 BTD Ida Ertmanska Source Expert Review Green was added to BTD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v7.36 CDK5 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: CDK5.
Malformations of cortical development v7.36 NFIA Ida Ertmanska Tag Q3_25_promote_green was removed from gene: NFIA.
Malformations of cortical development v7.36 NFIA Ida Ertmanska reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v7.36 CDK5 Ida Ertmanska reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v7.35 NFIA Ida Ertmanska Source Expert Review Green was added to NFIA.
Source NHS GMS was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v7.35 CDK5 Ida Ertmanska Source Expert Review Green was added to CDK5.
Source NHS GMS was added to CDK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v7.22 FLVCR1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: FLVCR1.
Limb disorders v7.22 RPL26 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: RPL26.
Limb disorders v7.22 RPL26 Ida Ertmanska reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v7.22 FLVCR1 Ida Ertmanska reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v7.21 RPL26 Ida Ertmanska Source NHS GMS was added to RPL26.
Source Expert Review Green was added to RPL26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v7.21 FLVCR1 Ida Ertmanska Source NHS GMS was added to FLVCR1.
Source Expert Review Green was added to FLVCR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v8.15 SPTLC2 Achchuthan Shanmugasundram reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v8.15 SPTLC1 Achchuthan Shanmugasundram reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v8.15 POLG Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v8.15 CST3 Achchuthan Shanmugasundram commented on gene: CST3: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewes note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder.
Adult onset neurodegenerative disorder v8.14 CACNA1A_CAG Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from STR: CACNA1A_CAG.
Tag Q2_25_expert_review was removed from STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v8.14 CACNA1A_CAG Achchuthan Shanmugasundram reviewed STR: CACNA1A_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v8.14 ATXN10_ATTCT Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from STR: ATXN10_ATTCT.
Adult onset neurodegenerative disorder v8.14 ATXN10_ATTCT Achchuthan Shanmugasundram reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v8.14 CACNA1A_CAG Achchuthan Shanmugasundram Classified STR: CACNA1A_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v8.14 CACNA1A_CAG Achchuthan Shanmugasundram Str: cacna1a_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v8.13 ATXN10_ATTCT Achchuthan Shanmugasundram Classified STR: ATXN10_ATTCT as Green List (high evidence)
Adult onset neurodegenerative disorder v8.13 ATXN10_ATTCT Achchuthan Shanmugasundram Str: atxn10_attct has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v8.12 SPTLC2 Achchuthan Shanmugasundram Source NHS GMS was added to SPTLC2.
Source Expert Review Green was added to SPTLC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v8.12 SPTLC1 Achchuthan Shanmugasundram Source Expert Review Green was added to SPTLC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v8.12 POLG Achchuthan Shanmugasundram Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v6.10 NOTCH3 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: NOTCH3.
Adult onset leukodystrophy v6.10 CST3 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: CST3.
Tag Q2_25_ NHS_review was removed from gene: CST3.
Renal ciliopathies v4.11 DLG5 Eleanor Williams Tag Q2_25_ MOI was removed from gene: DLG5.
Tag Q2_25_ NHS_review was removed from gene: DLG5.
Renal ciliopathies v4.11 DLG5 Eleanor Williams commented on gene: DLG5: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v6.10 NOTCH3 Achchuthan Shanmugasundram commented on gene: NOTCH3: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v6.10 CST3 Achchuthan Shanmugasundram commented on gene: CST3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Adult onset dystonia, chorea or related movement disorder v5.5 XK Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: XK.
Renal ciliopathies v4.10 DLG5 Eleanor Williams Source NHS GMS was added to DLG5.
Mode of inheritance for gene DLG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v6.9 NOTCH3 Achchuthan Shanmugasundram Mode of inheritance for gene NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v6.9 CST3 Achchuthan Shanmugasundram Source Expert Review Green was added to CST3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v5.5 SPR Achchuthan Shanmugasundram Tag Q1_25_ MOI was removed from gene: SPR.
Tag Q1_25_ demote_red was removed from gene: SPR.
Tag Q1_25_ expert_review was removed from gene: SPR.
Adult onset dystonia, chorea or related movement disorder v5.5 XK Achchuthan Shanmugasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v5.5 SPR Achchuthan Shanmugasundram reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v5.4 XK Achchuthan Shanmugasundram Source NHS GMS was added to XK.
Source Expert Review Green was added to XK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v5.4 SPR Achchuthan Shanmugasundram Source Expert Review Red was added to SPR.
Mode of inheritance for gene SPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.96 RPL3L Arina Puzriakova Tag Q3_24_NHS_review was removed from gene: RPL3L.
Tag Q3_25_NHS_review tag was added to gene: RPL3L.
Early onset or syndromic epilepsy v8.133 GABRA3 Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported in literature with variants in GABRA3 and epilepsy. GOF variants cause a more severe, X-linked dominant phenotype (early-onset, treatment resistant epilepsy), while LOF variants usually result in a milder phenotype (epilepsy is rare) and an X-linked recessive inheritance pattern. Based on available evidence, GABRA3 should be promoted to Green with MOI X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).; to: Comment on list classification: There are numerous patients reported in literature with variants in GABRA3 and epilepsy. GOF variants cause a more severe, X-linked dominant phenotype (early-onset, treatment resistant epilepsy), while LOF variants usually result in a milder phenotype (epilepsy is rare) and an X-linked recessive inheritance pattern. Functional evidence in mouse models supports these mechanistic findings. Based on available evidence, GABRA3 should be promoted to Green with MOI X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).
Early onset or syndromic epilepsy v8.133 GABRA3 Ida Ertmanska changed review comment from: PMID: 41289009 Johannesen et al., 2025
Cohort of 43 individuals (18 males and 25 females) with GABRA3 variants - some reported previously. Detailed genotype–phenotype analyses showed that pathogenic GABRA3 variants can cause either dominant or recessive X-linked disorders. GOF variants caused severe phenotypes and followed X-linked dominant inheritance, while LOF variants resulted in milder phenotypes and followed an X-linked recessive pattern. 30 individuals are described in detail, others excluded due to family history or neutral impact of variant.

Among the 20 individuals with GOF variants, 85% (17/20) had epilepsy with a median age of onset at 33 months (range 2–252 months). In contrast, only 10% (1/10) with LOF variants had epilepsy, with onset at 4 months. Individuals with GOF variants were more likely to have severe ID (8/20 vs. 0/10 in LOF group). Female carriers of LOF variants were unaffected.

GABRA3 is linked to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 (OMIM accessed 10th Mar 2026).
Sources: Literature; to: PMID: 41289009 Johannesen et al., 2025
Cohort of 43 individuals (18 males and 25 females) with GABRA3 variants - some reported previously. Detailed genotype–phenotype analyses showed that pathogenic GABRA3 variants can cause either dominant or recessive X-linked disorders. GOF variants caused severe phenotypes and followed X-linked dominant inheritance, while LOF variants resulted in milder phenotypes and followed an X-linked recessive pattern. 30 individuals are described in detail, others excluded due to family history or neutral impact of variant.

Among the 20 individuals with GOF variants, 85% (17/20) had epilepsy with a median age of onset at 33 months (range 2–252 months). In contrast, only 10% (1/10) with LOF variants had epilepsy, with onset at 4 months. Individuals with GOF variants were more likely to have severe ID (8/20 vs. 0/10 in LOF group). Female carriers of LOF variants were unaffected.

Functional evidence from PMID: 41289009 - Gabra3 KO mice do not exhibit early mortality or seizures; in contrast, an engineered mouse model carrying the GOF p.(Gln242Leu) variant recapitulated key human findings: male pups were not viable, while female mice had increased mortality in the first 2 months of life, and developed seizures in adulthood.

GABRA3 is linked to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 (OMIM accessed 10th Mar 2026).
Sources: Literature
Intellectual disability v9.296 GABRA3 Ida Ertmanska Classified gene: GABRA3 as Amber List (moderate evidence)
Intellectual disability v9.296 GABRA3 Ida Ertmanska Added comment: Comment on list classification: There are numerous patients reported in literature with variants in GABRA3 and syndromic intellectual disability. GOF variants cause a more severe, X-linked dominant phenotype (severe ID, nonverbal), while LOF variants usually result in a milder phenotype (mild to moderate ID, language impairment) and an X-linked recessive inheritance pattern. Based on available evidence, GABRA3 should be promoted to Green with MOI X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).
Intellectual disability v9.296 GABRA3 Ida Ertmanska Gene: gabra3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.133 GABRA3 Ida Ertmanska Classified gene: GABRA3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.133 GABRA3 Ida Ertmanska Added comment: Comment on list classification: There are numerous patients reported in literature with variants in GABRA3 and epilepsy. GOF variants cause a more severe, X-linked dominant phenotype (early-onset, treatment resistant epilepsy), while LOF variants usually result in a milder phenotype (epilepsy is rare) and an X-linked recessive inheritance pattern. Based on available evidence, GABRA3 should be promoted to Green with MOI X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).
Early onset or syndromic epilepsy v8.133 GABRA3 Ida Ertmanska Gene: gabra3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.295 GABRA3 Ida Ertmanska gene: GABRA3 was added
gene: GABRA3 was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: GABRA3.
Mode of inheritance for gene: GABRA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GABRA3 were set to 41289009
Phenotypes for gene: GABRA3 were set to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091
Review for gene: GABRA3 was set to GREEN
Added comment: PMID: 41289009 Johannesen et al., 2025
Cohort of 43 individuals (18 males and 25 females) with GABRA3 variants - some reported previously. Detailed genotype–phenotype analyses showed that pathogenic GABRA3 variants can cause either dominant or recessive X-linked disorders. GOF variants caused severe phenotypes and followed X-linked dominant inheritance, while LOF variants resulted in milder phenotypes and followed an X-linked recessive pattern. 30 individuals are described in detail, others excluded due to family history or neutral impact of variant.

Among the 20 individuals with GOF variants, 85% (17/20) had epilepsy with a median age of onset at 33 months (range 2–252 months). In contrast, only 10% (1/10) with LOF variants had epilepsy, with onset at 4 months. Individuals with GOF variants were more likely to have severe ID (8/20 vs. 0/10 in LOF group). Female carriers of LOF variants were unaffected.

GABRA3 is linked to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 (OMIM accessed 10th Mar 2026).
Sources: Literature
Early onset or syndromic epilepsy v8.132 GABRA3 Ida Ertmanska gene: GABRA3 was added
gene: GABRA3 was added to Early onset or syndromic epilepsy. Sources: Literature
Q1_26_promote_green tags were added to gene: GABRA3.
Mode of inheritance for gene: GABRA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GABRA3 were set to 41289009
Phenotypes for gene: GABRA3 were set to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091
Review for gene: GABRA3 was set to GREEN
Added comment: PMID: 41289009 Johannesen et al., 2025
Cohort of 43 individuals (18 males and 25 females) with GABRA3 variants - some reported previously. Detailed genotype–phenotype analyses showed that pathogenic GABRA3 variants can cause either dominant or recessive X-linked disorders. GOF variants caused severe phenotypes and followed X-linked dominant inheritance, while LOF variants resulted in milder phenotypes and followed an X-linked recessive pattern. 30 individuals are described in detail, others excluded due to family history or neutral impact of variant.

Among the 20 individuals with GOF variants, 85% (17/20) had epilepsy with a median age of onset at 33 months (range 2–252 months). In contrast, only 10% (1/10) with LOF variants had epilepsy, with onset at 4 months. Individuals with GOF variants were more likely to have severe ID (8/20 vs. 0/10 in LOF group). Female carriers of LOF variants were unaffected.

GABRA3 is linked to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 (OMIM accessed 10th Mar 2026).
Sources: Literature
Retinal disorders v8.95 TEAD1 Ida Ertmanska changed review comment from: PMID: 15016762 Fossdal et al., 2004
TEAD1 (c.1261T>C, p.Tyr421His) variant identified as causal for first reported Icelandic pedigree with SCRA. Variant not in gnomAD v4.1.0.

PMID: 26091538 Schrauwen et al., 2015
Patient with a de novo TEAD1 variant NM_021961.5:c.618G>A; p.Trp206Ter and Aicardi syndrome (infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae). Variant not reported in gnomAD v4.1.0.

PMID: 33864784 Grubisa et al., 2021
Serbian family with Sveinsson's chorioretinal atrophy (affected father and 2 children, diagnosed at 45, 20, and 15 years old). TEAD1 sequencing revealed c.1261T>A, p.Tyr421Asn in TEAD1 - not present in gnomAD v4.1.0. Family first reported in PMID: 15359244.

PMID: 40984966 Murati Calderon et al., 2025
Report of a 61-year-old Hispanic female patient with clinical features consistent with Sveinsson chorioretinal atrophy (SCRA), including bilateral peripapillary chorioretinal atrophy and early macular involvement. Heterozygous for TEAD1 variant (c.599C>T; p.Ala200Val) - 29 heterozygotes reported in gnomAD v4.1.0.

TEAD1 is linked to AD Sveinsson chorioretinal atrophy 108985 in OMIM (accessed 10th Mar 2026).; to: PMID: 15016762 Fossdal et al., 2004
TEAD1 (c.1261T>C, p.Tyr421His) variant identified as causal for first reported Icelandic pedigree with SCRA. Variant not in gnomAD v4.1.0.

PMID: 26091538 Schrauwen et al., 2015
Patient with a de novo TEAD1 variant NM_021961.5:c.618G>A; p.Trp206Ter and Aicardi syndrome (infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae). Variant not reported in gnomAD v4.1.0.

PMID: 33864784 Grubisa et al., 2021
Serbian family with Sveinsson's chorioretinal atrophy (affected father and 2 children, diagnosed at 45, 20, and 15 years old). TEAD1 sequencing revealed c.1261T>A, p.Tyr421Asn in TEAD1 - not present in gnomAD v4.1.0. Family first reported in PMID: 15359244.

PMID: 40984966 Murati Calderon et al., 2025
Report of a 61-year-old Hispanic female patient with clinical features consistent with Sveinsson chorioretinal atrophy (SCRA), including bilateral peripapillary chorioretinal atrophy and early macular involvement. Heterozygous for TEAD1 variant (c.599C>T; p.Ala200Val) - 29 heterozygotes reported in gnomAD v4.1.0. Used a retinal panel of 330 genes.

TEAD1 is linked to AD Sveinsson chorioretinal atrophy 108985 in OMIM (accessed 10th Mar 2026).
Retinal disorders v8.95 TEAD1 Ida Ertmanska Phenotypes for gene: TEAD1 were changed from to Sveinsson chorioretinal atrophy, OMIM:108985; helicoid peripapillary chorioretinal degeneration, MONDO:0007176
Retinal disorders v8.94 TEAD1 Ida Ertmanska Publications for gene: TEAD1 were set to
Retinal disorders v8.93 TEAD1 Ida Ertmanska Mode of inheritance for gene: TEAD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v8.92 TEAD1 Ida Ertmanska Classified gene: TEAD1 as Amber List (moderate evidence)
Retinal disorders v8.92 TEAD1 Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 unrelated individuals of varied ancestry with heterozygous TEAD1 variants and retinal disease. There is good evidence of dominant segregation within pedigrees. Hence, TEAD1 should be promoted to Green at the next GMS update.
Retinal disorders v8.92 TEAD1 Ida Ertmanska Gene: tead1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.91 TEAD1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: TEAD1.
Retinal disorders v8.91 TEAD1 Ida Ertmanska reviewed gene: TEAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15016762, 26091538, 33864784, 40984966; Phenotypes: Sveinsson chorioretinal atrophy, OMIM:108985, helicoid peripapillary chorioretinal degeneration, MONDO:0007176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v7.39 CHRNA3 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: CHRNA3.
Hereditary neuropathy or pain disorder v7.39 CHRNA3 Ida Ertmanska Classified gene: CHRNA3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v7.39 CHRNA3 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 individuals reported in literature with an autonomic nervous system disorder and biallelic CHRNA3 variants. Individuals presented with severe orthostatic hypotension, nonreactive pupils, constipation, and bladder dysfunction. Hence, CHRNA3 should be promoted to Green at the next update.
Hereditary neuropathy or pain disorder v7.39 CHRNA3 Ida Ertmanska Gene: chrna3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v7.38 CHRNA3 Ida Ertmanska Phenotypes for gene: CHRNA3 were changed from Familial Autonomic Ganglionopathy to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, OMIM:191800; autonomic nervous system disorder, MONDO:0001292
Hereditary neuropathy or pain disorder v7.37 CHRNA3 Ida Ertmanska Publications for gene: CHRNA3 were set to PMID: 33947782; 37161764
Hereditary neuropathy or pain disorder v7.36 CHRNA3 Ida Ertmanska edited their review of gene: CHRNA3: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v7.36 CHRNA3 Ida Ertmanska reviewed gene: CHRNA3: Rating: ; Mode of pathogenicity: None; Publications: 38192228, 37161764, 33947782, 31708116; Phenotypes: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, OMIM:191800; Mode of inheritance: None
Fetal anomalies v6.155 RNU7-1 Arina Puzriakova Publications for gene: RNU7-1 were set to
Fetal anomalies v6.154 RNU7-1 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova commented on gene: RNU2-2P: The new-gene-name tag has been added as the latest HGNC symbol is RNU2-2.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova Tag new-gene-name tag was added to gene: RNU2-2P.
Tag locus-type-rna-small-nuclear tag was added to gene: RNU2-2P.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova Publications for gene: RNU2-2P were set to
Fetal anomalies v6.153 CLCNKB Arina Puzriakova commented on gene: CLCNKB: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKB variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.153 CLCNKB Arina Puzriakova Publications for gene: CLCNKB were set to
Fetal anomalies v6.152 CLCNKB Arina Puzriakova Tag digenic tag was added to gene: CLCNKB.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova changed review comment from: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.; to: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKA variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova commented on gene: CLCNKA: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Tag digenic tag was added to gene: CLCNKA.
Fetal anomalies v6.152 ACVR2B Arina Puzriakova Added phenotypes Heterotaxy, visceral, 4, autosomal for gene: ACVR2B
Fetal anomalies v6.152 SPTBN1 Arina Puzriakova Added phenotypes Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475 for gene: SPTBN1
Fetal anomalies v6.152 TAF13 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 60, OMIM:617432 for gene: TAF13
Fetal anomalies v6.152 PLXNB2 Arina Puzriakova Added phenotypes amelogenesis imperfecta, hearing loss and intellectual disability for gene: PLXNB2
Fetal anomalies v6.152 ZDHHC9 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799 for gene: ZDHHC9
Fetal anomalies v6.152 TRIO Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825 for gene: TRIO
Fetal anomalies v6.152 SLC9A6 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243 for gene: SLC9A6
Fetal anomalies v6.152 SHROOM4 Arina Puzriakova Added phenotypes congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems for gene: SHROOM4
Fetal anomalies v6.152 PLXNA1 Arina Puzriakova Added phenotypes Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 for gene: PLXNA1
Fetal anomalies v6.152 HDAC2 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: HDAC2
Fetal anomalies v6.152 CHD8 Arina Puzriakova Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8
Fetal anomalies v6.152 BRWD3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked 93, OMIM:300659 for gene: BRWD3
Fetal anomalies v6.152 SGCG Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700 for gene: SGCG
Fetal anomalies v6.152 SGCD Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287 for gene: SGCD
Fetal anomalies v6.152 SGCB Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286 for gene: SGCB
Fetal anomalies v6.152 SGCA Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 for gene: SGCA
Fetal anomalies v6.152 PPP1R13L Arina Puzriakova Added phenotypes Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 for gene: PPP1R13L
Fetal anomalies v6.152 POLA1 Arina Puzriakova Added phenotypes Van Esch-O'Driscoll syndrome, OMIM:301030 for gene: POLA1
Fetal anomalies v6.152 PIGU Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 for gene: PIGU
Fetal anomalies v6.152 PIGK Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879 for gene: PIGK
Fetal anomalies v6.152 PIGB Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 for gene: PIGB
Fetal anomalies v6.152 WDR11 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 78, OMIM:620237 for gene: WDR11
Fetal anomalies v6.152 WASHC3 Arina Puzriakova Added phenotypes short stature, distinctive facies, and neurodevelopmental abnormalities for gene: WASHC3
Fetal anomalies v6.152 VPS51 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 13, OMIM:618606 for gene: VPS51
Fetal anomalies v6.152 VPS50 Arina Puzriakova Added phenotypes neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685 for gene: VPS50
Fetal anomalies v6.152 VPS33A Arina Puzriakova Added phenotypes Mucopolysaccharidosis-plus syndrome, OMIM:617303 for gene: VPS33A
Fetal anomalies v6.152 UGGT1 Arina Puzriakova Added phenotypes Congenital disorder of glycosylation for gene: UGGT1
Fetal anomalies v6.152 TUBGCP2 Arina Puzriakova Added phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 for gene: TUBGCP2
Fetal anomalies v6.152 CLCNKB Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter syndrome, type 3, OMIM:607364 for gene: CLCNKB
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 for gene: CLCNKA
Fetal anomalies v6.152 DHX37 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731 for gene: DHX37
Fetal anomalies v6.152 SNAPIN Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: SNAPIN
Fetal anomalies v6.152 PATJ Arina Puzriakova Added phenotypes ciliopathy for gene: PATJ
Fetal anomalies v6.152 NSD2 Arina Puzriakova Added phenotypes Rauch-Steindl syndrome OMIM:619695 for gene: NSD2
Fetal anomalies v6.152 MNS1 Arina Puzriakova Added phenotypes Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive) for gene: MNS1
Fetal anomalies v6.152 CCP110 Arina Puzriakova Added phenotypes ciliopathy for gene: CCP110
Fetal anomalies v6.152 PLXNB3 Arina Puzriakova Added phenotypes congenital heart disease with neurodevelopmental disabilities for gene: PLXNB3
Fetal anomalies v6.152 ARHGEF17 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: ARHGEF17
Fetal anomalies v6.152 FBXO11 Arina Puzriakova Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 for gene: FBXO11
Fetal anomalies v6.152 PPP1R12A Arina Puzriakova Added phenotypes Genitourinary and/or brain malformation syndrome, OMIM:618820 for gene: PPP1R12A
Fetal anomalies v6.152 PRDM13 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 17, OMIM:619909 for gene: PRDM13
Fetal anomalies v6.152 CDC40 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 15, OMIM:619302 for gene: CDC40
Fetal anomalies v6.152 PCLO Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 3, OMIM:608027 for gene: PCLO
Fetal anomalies v6.152 EXOSC1 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 1F, OMIM:619304 for gene: EXOSC1
Fetal anomalies v6.152 EXOSC9 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 1D, OMIM:618065 for gene: EXOSC9
Fetal anomalies v6.152 CCT8 Arina Puzriakova Added phenotypes Brain malformations, intellectual disability, and seizures for gene: CCT8
Fetal anomalies v6.152 CCM2L Arina Puzriakova Added phenotypes Tetralogy of Fallot for gene: CCM2L
Fetal anomalies v6.152 CCDC88A Arina Puzriakova Added phenotypes PEHO syndrome-like, OMIM:617507 for gene: CCDC88A
Fetal anomalies v6.152 CBFB Arina Puzriakova Added phenotypes Cleidocranial dysplasia-2, OMIM:620099 for gene: CBFB
Fetal anomalies v6.152 BRF2 Arina Puzriakova Added phenotypes Syndromic immunodeficiency and developmental disorders for gene: BRF2
Fetal anomalies v6.152 BRF1 Arina Puzriakova Added phenotypes Cerebellofaciodental syndrome, OMIM:616202 for gene: BRF1
Fetal anomalies v6.152 B9D1 Arina Puzriakova Added phenotypes Joubert syndrome 27, OMIM:617120 for gene: B9D1
Fetal anomalies v6.152 ARAF Arina Puzriakova Added phenotypes Lymphatic anomaly for gene: ARAF
Fetal anomalies v6.152 ANKRD17 Arina Puzriakova Added phenotypes Chopra-Amiel-Gordon syndrome, OMIM:619504 for gene: ANKRD17
Fetal anomalies v6.152 ALKBH8 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 for gene: ALKBH8
Fetal anomalies v6.152 AIMP2 Arina Puzriakova Added phenotypes Leukodystrophy, hypomyelinating, 17, OMIM:618006 for gene: AIMP2
Fetal anomalies v6.152 AIMP1 Arina Puzriakova Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1
Fetal anomalies v6.152 ADAT3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 for gene: ADAT3
Fetal anomalies v6.152 ADAMTS13 Arina Puzriakova Added phenotypes Hereditary thrombotic thrombocytopenic purpura, OMIM:274150 for gene: ADAMTS13
Fetal anomalies v6.152 ABI2 Arina Puzriakova Added phenotypes Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities for gene: ABI2
Fetal anomalies v6.152 RHOBTB2 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 64, OMIM:618004 for gene: RHOBTB2
Fetal anomalies v6.152 RBBP5 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RBBP5
Fetal anomalies v6.152 RALGAPA1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797 for gene: RALGAPA1
Fetal anomalies v6.152 RALA Arina Puzriakova Added phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311 for gene: RALA
Fetal anomalies v6.152 PPP1R21 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 for gene: PPP1R21
Fetal anomalies v6.152 RNU2-2P Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RNU2-2P
Fetal anomalies v6.152 ACVR1 Arina Puzriakova Added phenotypes Fibrodysplasia ossificans progressiva, OMIM:135100 for gene: ACVR1
Fetal anomalies v6.152 TMPRSS7 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: TMPRSS7
Fetal anomalies v6.152 IL6ST Arina Puzriakova Added phenotypes Stuve-Wiedemann syndrome 2, OMIM:619751 for gene: IL6ST
Fetal anomalies v6.152 ZBTB7A Arina Puzriakova Added phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 for gene: ZBTB7A
Fetal anomalies v6.152 ASXL2 Arina Puzriakova Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Fetal anomalies v6.152 ZPR1 Arina Puzriakova Added phenotypes Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 for gene: ZPR1
Fetal anomalies v6.152 ZNF668 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 for gene: ZNF668
Fetal anomalies v6.152 YY1AP1 Arina Puzriakova Added phenotypes Grange syndrome, OMIM:602531 for gene: YY1AP1
Fetal anomalies v6.152 WNK3 Arina Puzriakova Added phenotypes Prieto syndrome, OMIM:309610 for gene: WNK3
Fetal anomalies v6.152 TEK Arina Puzriakova Added phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195 for gene: TEK
Fetal anomalies v6.152 GATAD2B Arina Puzriakova Added phenotypes GAND syndrome, OMIM:615074 for gene: GATAD2B
Fetal anomalies v6.152 CACHD1 Arina Puzriakova Added phenotypes Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities for gene: CACHD1
Fetal anomalies v6.152 BAZ2B Arina Puzriakova Added phenotypes Complex neurodevelopmental disorder for gene: BAZ2B
Fetal anomalies v6.152 ARHGEF40 Arina Puzriakova Added phenotypes Congenital anomalies and developmental delay for gene: ARHGEF40
Fetal anomalies v6.152 SMARCC2 Arina Puzriakova Added phenotypes Coffin-Siris syndrome 8, OMIM:618362 for gene: SMARCC2
Fetal anomalies v6.152 SATB1 Arina Puzriakova Added phenotypes Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228 for gene: SATB1
Fetal anomalies v6.152 SART3 Arina Puzriakova Added phenotypes Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis for gene: SART3
Fetal anomalies v6.152 ROBO4 Arina Puzriakova Added phenotypes Aortic valve disease 3, OMIM:618496 for gene: ROBO4
Fetal anomalies v6.152 RNF13 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 73, OMIM:618379 for gene: RNF13
Fetal anomalies v6.152 TMEM263 Arina Puzriakova Added phenotypes skeletal dysplasia for gene: TMEM263
Fetal anomalies v6.152 TMEM251 Arina Puzriakova Added phenotypes Dysostosis multiplex, Ain-Naz type, OMIM:619345 for gene: TMEM251
Fetal anomalies v6.152 SMG8 Arina Puzriakova Added phenotypes Alzahrani-Kuwahara syndrome, OMIM:619268 for gene: SMG8
Fetal anomalies v6.152 SMC5 Arina Puzriakova Added phenotypes Atelis syndrome 2, OMIM:620185 for gene: SMC5
Fetal anomalies v6.152 SLF2 Arina Puzriakova Added phenotypes Atelis syndrome 1, OMIM:620184 for gene: SLF2
Fetal anomalies v6.152 SLC5A6 Arina Puzriakova Added phenotypes Sodium-dependent multivitamin transporter deficiency, OMIM:618973 for gene: SLC5A6
Fetal anomalies v6.152 SLC13A1 Arina Puzriakova Added phenotypes short stature, scoliosis, and skeletal dysplasia for gene: SLC13A1
Fetal anomalies v6.152 SIX2 Arina Puzriakova Added phenotypes frontonasal dysplasia for gene: SIX2
Fetal anomalies v6.152 SIX1 Arina Puzriakova Added phenotypes Branchiootic syndrome 3, OMIM:608389 for gene: SIX1
Fetal anomalies v6.152 SELENON Arina Puzriakova Added phenotypes Congenital myopathy 3 with rigid spine; OMIM:602771 for gene: SELENON
Fetal anomalies v6.152 CSDE1 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: CSDE1
Fetal anomalies v6.152 GINS3 Arina Puzriakova Added phenotypes Meier-Gorlin syndrome for gene: GINS3
Fetal anomalies v6.152 CAMSAP1 Arina Puzriakova Added phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 for gene: CAMSAP1
Fetal anomalies v6.152 BUB1 Arina Puzriakova Added phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 for gene: BUB1
Fetal anomalies v6.152 RAB35 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RAB35
Fetal anomalies v6.152 ARF3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder, brain abnormality for gene: ARF3
Fetal anomalies v6.152 ANKLE2 Arina Puzriakova Added phenotypes Microcephaly 16, primary, autosomal recessive, OMIM:616681 for gene: ANKLE2
Fetal anomalies v6.152 ETV2 Arina Puzriakova Added phenotypes congenital heart defects, vertebral abnormalities and preaxial polydactyly for gene: ETV2
Fetal anomalies v6.152 RAD51C Arina Puzriakova Added phenotypes Fanconi anemia, complementation group O, OMIM:613390 for gene: RAD51C
Fetal anomalies v6.152 CEP162 Arina Puzriakova Added phenotypes ciliopathy for gene: CEP162
Fetal anomalies v6.152 LINC01578 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 for gene: LINC01578
Fetal anomalies v6.152 KCNN4 Arina Puzriakova Added phenotypes Dehydrated hereditary stomatocytosis 2, OMIM:616689 for gene: KCNN4
Fetal anomalies v6.152 MMP9 Arina Puzriakova Added phenotypes Metaphyseal anadysplasia 2, OMIM:613073 for gene: MMP9
Fetal anomalies v6.152 KDM4B Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 65, OMIM:619320 for gene: KDM4B
Fetal anomalies v6.152 TMEM167A Arina Puzriakova Added phenotypes Microcephaly, epilepsy and diabetes syndrome for gene: TMEM167A
Fetal anomalies v6.152 PTBP1 Arina Puzriakova Added phenotypes neurodevelopmental disorder with skeletal dysplasia for gene: PTBP1
Fetal anomalies v6.152 PDIA6 Arina Puzriakova Added phenotypes Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay for gene: PDIA6
Fetal anomalies v6.152 CRELD1 Arina Puzriakova Added phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 for gene: CRELD1
Fetal anomalies v6.152 DLG3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked 90, OMIM:300850 for gene: DLG3
Fetal anomalies v6.152 SF1 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: SF1
Fetal anomalies v6.152 TH Arina Puzriakova Added phenotypes Segawa syndrome, recessive, OMIM:605407 for gene: TH
Fetal anomalies v6.152 YRDC Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 10, OMIM:619609 for gene: YRDC
Fetal anomalies v6.152 NUP133 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 8, OMIM:618349 for gene: NUP133
Fetal anomalies v6.152 GON7 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 9, OMIM:619603 for gene: GON7
Fetal anomalies v6.152 TPRKB Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 5, OMIM:617731 for gene: TPRKB
Fetal anomalies v6.152 TP53RK Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 4, OMIM:617730 for gene: TP53RK
Fetal anomalies v6.152 THUMPD1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989 for gene: THUMPD1
Fetal anomalies v6.152 TASP1 Arina Puzriakova Added phenotypes Suleiman-El-Hattab syndrome, OMIM:618950 for gene: TASP1
Fetal anomalies v6.152 SPOP Arina Puzriakova Added phenotypes Nabais Sa-de Vries syndrome, type 1, OMIM:618828; Nabais Sa-de Vries syndrome, type 2, OMIM:618829 for gene: SPOP
Fetal anomalies v6.152 SOX4 Arina Puzriakova Added phenotypes Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506 for gene: SOX4
Fetal anomalies v6.152 RSG1 Arina Puzriakova Added phenotypes ciliopathy for gene: RSG1
Fetal anomalies v6.152 DHRS3 Arina Puzriakova Added phenotypes coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis for gene: DHRS3
Fetal anomalies v6.152 NR6A1 Arina Puzriakova Added phenotypes Oculovertebral syndrome, OMIM:621277 for gene: NR6A1
Fetal anomalies v6.152 WSB2 Arina Puzriakova Added phenotypes neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly for gene: WSB2
Fetal anomalies v6.152 WDR91 Arina Puzriakova Added phenotypes microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment for gene: WDR91
Fetal anomalies v6.152 TTC26 Arina Puzriakova Added phenotypes Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534 for gene: TTC26
Fetal anomalies v6.152 TMEM17 Arina Puzriakova Added phenotypes Ciliopathy for gene: TMEM17
Fetal anomalies v6.152 SMAD5 Arina Puzriakova Added phenotypes congenital heart disease for gene: SMAD5
Fetal anomalies v6.152 SCNM1 Arina Puzriakova Added phenotypes Orofaciodigital syndrome XIX; OMIM:620107 for gene: SCNM1
Fetal anomalies v6.152 RREB1 Arina Puzriakova Added phenotypes Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay for gene: RREB1
Fetal anomalies v6.152 PDCD6IP Arina Puzriakova Added phenotypes Microcephaly 29, primary, autosomal recessive, OMIM:620047 for gene: PDCD6IP
Fetal anomalies v6.152 GPKOW Arina Puzriakova Added phenotypes Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities for gene: GPKOW
Fetal anomalies v6.152 CEP76 Arina Puzriakova Added phenotypes Joubert syndrome; Bardet-Biedl syndrome; retinitis pigmentosa; complex neurodevelopmental disorder MONDO:0100038 for gene: CEP76
Fetal anomalies v6.152 CCDC32 Arina Puzriakova Added phenotypes Cardiofacioneurodevelopmental syndrome, OMIM:619123 for gene: CCDC32
Fetal anomalies v6.152 BBIP1 Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 18, MIM #615995 for gene: BBIP1
Fetal anomalies v6.152 RNU7-1 Arina Puzriakova Added phenotypes Aicardi-Goutieres syndrome 9 OMIM:619487 for gene: RNU7-1
Fetal anomalies v6.152 MYLPF Arina Puzriakova Added phenotypes Arthrogryposis, distal, type 1C, OMIM:617378 for gene: MYLPF
Fetal anomalies v6.152 LMOD2 Arina Puzriakova Added phenotypes Cardiomyopathy, dilated, 2G, OMIM:619897 for gene: LMOD2
Fetal anomalies v6.152 LHX2 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: LHX2
Fetal anomalies v6.152 HMGB1 Arina Puzriakova Added phenotypes brachyphalangy, polydactyly and tibial aplasia syndrome for gene: HMGB1
Fetal anomalies v6.152 NUDCD2 Arina Puzriakova Added phenotypes multiple malformation syndrome with cholestasis and renal failure for gene: NUDCD2
Fetal anomalies v6.152 RNU5A-1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: RNU5A-1
Fetal anomalies v6.152 RNPC3 Arina Puzriakova Added phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 for gene: RNPC3
Fetal anomalies v6.152 RASA2 Arina Puzriakova Added phenotypes Noonan syndrome for gene: RASA2
Fetal anomalies v6.152 PURA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158 for gene: PURA
Fetal anomalies v6.152 PLOD3 Arina Puzriakova Added phenotypes BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394 for gene: PLOD3
Fetal anomalies v6.152 PDCD2 Arina Puzriakova Added phenotypes Nonimmune hydrops fetalis for gene: PDCD2
Fetal anomalies v6.152 NOVA2 Arina Puzriakova Added phenotypes neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities for gene: NOVA2
Fetal anomalies v6.152 NOTCH3 Arina Puzriakova Added phenotypes Lateral meningocele syndrome, OMIM:130720 for gene: NOTCH3
Fetal anomalies v6.152 BNIP1 Arina Puzriakova Added phenotypes Spondyloepiphyseal dysplasia, Holling type, OMIM:621345 for gene: BNIP1
Fetal anomalies v6.152 PACSIN3 Arina Puzriakova Added phenotypes Congenital myopathy 27, OMIM:621343 for gene: PACSIN3
Fetal anomalies v6.152 SEPHS1 Arina Puzriakova Added phenotypes Ververi-Brady syndrome 2, OMIM:621325 for gene: SEPHS1
Fetal anomalies v6.152 ELFN1 Arina Puzriakova Added phenotypes Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344 for gene: ELFN1
Fetal anomalies v6.152 LSM1 Arina Puzriakova Added phenotypes FICUS syndrome, OMIM:621193 for gene: LSM1
Fetal anomalies v6.152 LEF1 Arina Puzriakova Added phenotypes Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224 for gene: LEF1
Fetal anomalies v6.152 LDB3 Arina Puzriakova Added phenotypes Dilated cardiomyopathy for gene: LDB3
Fetal anomalies v6.152 IKZF2 Arina Puzriakova Added phenotypes Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 for gene: IKZF2
Fetal anomalies v6.152 GTF3C3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 for gene: GTF3C3
Fetal anomalies v6.152 GNPNAT1 Arina Puzriakova Added phenotypes Talipes equinovarus for gene: GNPNAT1
Fetal anomalies v6.152 FGF4 Arina Puzriakova Added phenotypes Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 for gene: FGF4
Fetal anomalies v6.152 FEM1B Arina Puzriakova Added phenotypes Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539 for gene: FEM1B
Fetal anomalies v6.152 DOT1L Arina Puzriakova Added phenotypes Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 for gene: DOT1L
Fetal anomalies v6.152 CDX1 Arina Puzriakova Added phenotypes Anorectal malformations for gene: CDX1
Fetal anomalies v6.152 CDH11 Arina Puzriakova Added phenotypes Teebi hypertelorism syndrome 2, OMIM:619736 for gene: CDH11
Fetal anomalies v6.152 FBXO28 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 for gene: FBXO28
Fetal anomalies v6.152 EMC10 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 for gene: EMC10
Fetal anomalies v6.152 EIF4A2 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455 for gene: EIF4A2
Fetal anomalies v6.152 EDN1 Arina Puzriakova Added phenotypes Auriculocondylar syndrome 3, OMIM:615706 for gene: EDN1
Fetal anomalies v6.152 DPH5 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 for gene: DPH5
Fetal anomalies v6.152 DIP2C Arina Puzriakova Added phenotypes neurodevelopmental disorder, congenital heart defects for gene: DIP2C
Fetal anomalies v6.152 DHPS Arina Puzriakova Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480 for gene: DHPS
Fetal anomalies v6.152 DDX23 Arina Puzriakova Added phenotypes Syndromic neurodevelopmental disorder for gene: DDX23
Fetal anomalies v6.152 CDC42BPB Arina Puzriakova Added phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841 for gene: CDC42BPB
Fetal anomalies v6.152 CDC42 Arina Puzriakova Added phenotypes Takenouchi-Kosaki syndrome, OMIM:616737 for gene: CDC42
Fetal anomalies v6.152 ADAMTS9 Arina Puzriakova Added phenotypes ciliopathy for gene: ADAMTS9
Fetal anomalies v6.152 YWHAE Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: YWHAE
Fetal anomalies v6.152 HNRNPH1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 for gene: HNRNPH1
Fetal anomalies v6.152 HNRNPR Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 for gene: HNRNPR
Fetal anomalies v6.152 CLCN3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 for gene: CLCN3
Fetal anomalies v6.152 ATP6V0A1 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 104, OMIM:619970; Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971 for gene: ATP6V0A1
Fetal anomalies v6.152 SKOR2 Arina Puzriakova Added phenotypes Cerebellar hypoplasia, neurodevelopmental delay for gene: SKOR2
Fetal anomalies v6.152 AMOT Arina Puzriakova Added phenotypes Congenital hydrocephalus for gene: AMOT
Fetal anomalies v6.152 PRKCI Arina Puzriakova Added phenotypes Van der Woude syndrome for gene: PRKCI
Fetal anomalies v6.152 TRPM4 Arina Puzriakova Added phenotypes Progressive familial heart block, type IB, OMIM:604559 for gene: TRPM4
Fetal anomalies v6.152 HERC2 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 38, OMIM:615516 for gene: HERC2
Fetal anomalies v6.152 HACD1 Arina Puzriakova Added phenotypes Congenital myopathy 11, OMIM:619967 for gene: HACD1
Fetal anomalies v6.152 H3F3B Arina Puzriakova Added phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721 for gene: H3F3B
Fetal anomalies v6.152 FIBP Arina Puzriakova Added phenotypes Thauvin-Robinet-Faivre syndrome, OMIM:617107 for gene: FIBP
Fetal anomalies v6.152 FBXW7 Arina Puzriakova Added phenotypes Developmental delay, hypotonia, and impaired language, OMIM:620012 for gene: FBXW7
Fetal anomalies v6.152 PMS2 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 4, OMIM:619101 for gene: PMS2
Fetal anomalies v6.152 MSH6 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 3, OMIM:619097 for gene: MSH6
Fetal anomalies v6.152 MSH2 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 2, OMIM:619096 for gene: MSH2
Fetal anomalies v6.152 MLH1 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 1, OMIM:276300 for gene: MLH1
Fetal anomalies v6.152 KCNJ8 Arina Puzriakova Added phenotypes Cantu syndrome for gene: KCNJ8
Fetal anomalies v6.152 MAST1 Arina Puzriakova Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273 for gene: MAST1
Fetal anomalies v6.152 MAPK8IP3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 for gene: MAPK8IP3
Fetal anomalies v6.152 LRRC32 Arina Puzriakova Added phenotypes Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047 for gene: LRRC32
Fetal anomalies v6.152 KIAA0556 Arina Puzriakova Added phenotypes Joubert syndrome 26, OMIM:616784 for gene: KIAA0556
Fetal anomalies v6.152 KCNQ5 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 46, OMIM:617601 for gene: KCNQ5
Fetal anomalies v6.152 INPP4A Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: INPP4A
Fetal anomalies v6.152 IFT57 Arina Puzriakova Added phenotypes Bardet-Biedl Syndrome for gene: IFT57
Fetal anomalies v6.152 HEY2 Arina Puzriakova Added phenotypes Tetralogy of Fallot for gene: HEY2
Fetal anomalies v6.152 FOXI3 Arina Puzriakova Added phenotypes Craniofacial microsomia 2, OMIM:620444 for gene: FOXI3
Fetal anomalies v6.152 ENPP5 Arina Puzriakova Added phenotypes Skeletal dysplasia for gene: ENPP5
Fetal anomalies v6.152 EDA Arina Puzriakova Added phenotypes Hypohidrotic ectodermal dysplasia for gene: EDA
Fetal anomalies v6.152 DNAH14 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: DNAH14
Fetal anomalies v6.152 DDR1 Arina Puzriakova Added phenotypes Chondrodysplasia with multiple dislocations for gene: DDR1
Fetal anomalies v6.152 CPOX Arina Puzriakova Added phenotypes Harderoporphyria, OMIM:618892 for gene: CPOX
Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: PSMB10.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.80 PSMB10 Ida Ertmanska commented on gene: PSMB10: Comment on mode of inheritance: There are now more than 3 cases reported with both mono- and bi- allelic PSMB10 variants - presenting with a proteasome-associated autoinflammatory syndrome (with or without recurrent infections and chronic diarrhea). Hence, the MOI should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Ectodermal dysplasia v4.25 PSMB10 Ida Ertmanska Classified gene: PSMB10 as Amber List (moderate evidence)
Ectodermal dysplasia v4.25 PSMB10 Ida Ertmanska Added comment: Comment on list classification: Monoallelic variants in PSMB10 have been reported to cause ectodermal dysplasia (alopecia, hypodontia, anonychia) in at least 5 unrelated individuals. Biallelic PSMB10 variants have not been linked to ectodermal dysplasia. Hence, the gene should be promoted to Green at the next update, with MOI MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.
Ectodermal dysplasia v4.25 PSMB10 Ida Ertmanska Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Ectodermal dysplasia v4.24 PSMB10 Ida Ertmanska gene: PSMB10 was added
gene: PSMB10 was added to Ectodermal dysplasia. Sources: Literature
Q1_26_promote_green tags were added to gene: PSMB10.
Mode of inheritance for gene: PSMB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMB10 were set to 31783057; 36250618; 37600812; 38503300; 39734035
Phenotypes for gene: PSMB10 were set to Immunodeficiency 121 with autoinflammation, OMIM:620807; Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Review for gene: PSMB10 was set to GREEN
Added comment: MONOALLELIC CASES:
PMID: 36250618 Hebert et al., 2022
Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant.

PMID: 38503300 van der Made et al., 2024
Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg.

PMID: 39734035 Kuehn et al., 2025
Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg.

https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025
Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3).
Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression.

BIALLELIC CASES:
PMID: 31783057 Sarrabay et al., 2020
3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency.

PMID: 37600812 Papendorf et al., 2023
Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. All 3 patients had skin lesions, recurrent fevers, failure to thrive; microcytic anemia ascertained in 2/3.

PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).
Sources: Literature
Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Classified gene: PSMB10 as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 cases reported with both mono- and bi- allelic PSMB10 variants, presenting with a chronic inflammatory skin rash. Hence, this gene should be promoted to Green with MOI BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Rare genetic inflammatory skin disorders v4.18 PSMB10 Ida Ertmanska Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v4.17 PSMB10 Ida Ertmanska gene: PSMB10 was added
gene: PSMB10 was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057; 36250618; 37600812; 38503300; 39734035
Phenotypes for gene: PSMB10 were set to Immunodeficiency 121 with autoinflammation, OMIM:620807; Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Review for gene: PSMB10 was set to GREEN
Added comment: MONOALLELIC CASES:
PMID: 36250618 Hebert et al., 2022
Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant.

PMID: 38503300 van der Made et al., 2024
Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg.

PMID: 39734035 Kuehn et al., 2025
Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg.

https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025
Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3).
Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression.

BIALLELIC CASES:
PMID: 31783057 Sarrabay et al., 2020
3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency.

PMID: 37600812 Papendorf et al., 2023
Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. All 3 patients had skin lesions, recurrent fevers, failure to thrive; microcytic anemia ascertained in 2/3.

PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v8.80 PSMB10 Ida Ertmanska Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome 5, OMIM:619175 to Immunodeficiency 121 with autoinflammation, OMIM:620807; Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Primary immunodeficiency or monogenic inflammatory bowel disease v8.79 PSMB10 Ida Ertmanska Publications for gene: PSMB10 were set to 31783057; 37600812
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Ida Ertmanska Tag Q1_26_NHS_review tag was added to gene: PSMB10.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: PSMB10.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Ida Ertmanska changed review comment from: MONOALLELIC CASES:
PMID: 36250618 Hebert et al., 2022
Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant.

PMID: 38503300 van der Made et al., 2024
Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg.

PMID: 39734035 Kuehn et al., 2025
Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg.

https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025
Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3).
Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression.

BIALLELIC CASES:
PMID: 31783057 Sarrabay et al., 2020
3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency.

PMID: 37600812 Papendorf et al., 2023
Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C.

PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).; to: MONOALLELIC CASES:
PMID: 36250618 Hebert et al., 2022
Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant.

PMID: 38503300 van der Made et al., 2024
Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg.

PMID: 39734035 Kuehn et al., 2025
Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg.

https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025
Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3).
Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression.

BIALLELIC CASES:
PMID: 31783057 Sarrabay et al., 2020
3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency.

PMID: 37600812 Papendorf et al., 2023
Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. All 3 patients had skin lesions, recurrent fevers, failure to thrive; microcytic anemia ascertained in 2/3.

PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Ida Ertmanska edited their review of gene: PSMB10: Changed publications to: 31783057, 36250618, 37600812, 38503300, 39734035
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Ida Ertmanska changed review comment from: PMID: 36250618 Hebert et al., 2022
Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant.

PMID: 38503300 van der Made et al., 2024
Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg.

PMID: 39734035 Kuehn et al., 2025
Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg.

https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025
Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3).
Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression.

PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).; to: MONOALLELIC CASES:
PMID: 36250618 Hebert et al., 2022
Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant.

PMID: 38503300 van der Made et al., 2024
Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg.

PMID: 39734035 Kuehn et al., 2025
Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg.

https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025
Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3).
Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression.

BIALLELIC CASES:
PMID: 31783057 Sarrabay et al., 2020
3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency.

PMID: 37600812 Papendorf et al., 2023
Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C.

PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Ida Ertmanska reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: 36250618, 38503300, 39734035; Phenotypes: Immunodeficiency 121 with autoinflammation, OMIM:620807, Proteasome-associated autoinflammatory syndrome 5, OMIM:619175; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.151 ZNF865 Ida Ertmanska gene: ZNF865 was added
gene: ZNF865 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF865 were set to 40936200
Phenotypes for gene: ZNF865 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ZNF865 was set to GREEN
Added comment: PMID: 40936200 Bradbrook et al., 2025 Report of 18 unrelated individuals (Caucasian / Latino ethnicity) with developmental delay and shared dysmorphic features, harbouring heterozygous variants in ZNF865. Method: WGS / WES. Majority described as severely delayed, with speech delay and moderate to severe learning difficulties; avg age of walking = 24 months, 9/18 patients presented with hypotonia, 1 patient diagnosed with epilepsy, 9/15 had digit anomalies. On MRI, 8/14 patients had brain abnormalities, including hypoplasia of corpus callosum and ventriculomegaly - may be detected prenatally?. Shared dysmorphic features: broad nasal bridge, hypertelorism, low-set ears. 14 unique variants (nonsense of frameshift) were detected, mostly towards the C-terminus. Variants were confirmed as de novo in 15 individuals.
This gene is not yet linked to any phenotype in OMIM (accessed 30th Dec 2025).
Sources: Literature
Malformations of cortical development v7.34 ZNF865 Ida Ertmanska Classified gene: ZNF865 as Amber List (moderate evidence)
Malformations of cortical development v7.34 ZNF865 Ida Ertmanska Added comment: Comment on list classification: There are 8 individuals reported in literature with heterozygous ZNF865 variants and brain abnormalities, including hypoplasia of corpus callosum and ventriculomegaly. Based on available evidence, this gene should be promoted to Green at the next GMS update.
Malformations of cortical development v7.34 ZNF865 Ida Ertmanska Gene: znf865 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.294 ZNF865 Ida Ertmanska Mode of inheritance for gene: ZNF865 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Malformations of cortical development v7.33 ZNF865 Ida Ertmanska gene: ZNF865 was added
gene: ZNF865 was added to Malformations of cortical development. Sources: Literature
Q1_26_promote_green tags were added to gene: ZNF865.
Mode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF865 were set to 40936200
Phenotypes for gene: ZNF865 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ZNF865 was set to GREEN
Added comment: PMID: 40936200 Bradbrook et al., 2025
Report of 18 unrelated individuals (Caucasian / Latino ethnicity) with developmental delay and shared dysmorphic features, harbouring heterozygous variants in ZNF865. Method: WGS / WES. Majority described as severely delayed, with speech delay and moderate to severe learning difficulties; avg age of walking = 24 months, 9/18 patients presented with hypotonia, 1 patient diagnosed with epilepsy, 9/15 had digit anomalies.
On MRI, 8/14 patients had brain abnormalities, including hypoplasia of corpus callosum and ventriculomegaly. Shared dysmorphic features: broad nasal bridge, hypertelorism, low-set ears.
14 unique variants (nonsense of frameshift) were detected, mostly towards the C-terminus. Variants were confirmed as de novo in 15 individuals.

This gene is not yet linked to any phenotype in OMIM (accessed 10th Mar 2026).
Sources: Literature
Intellectual disability v9.293 ZNF865 Ida Ertmanska edited their review of gene: ZNF865: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - narrow panel v8.64 ZNF865 Ida Ertmanska edited their review of gene: ZNF865: Changed rating: RED
Ataxia and cerebellar anomalies - narrow panel v8.64 ZNF865 Ida Ertmanska Deleted their comment
Ataxia and cerebellar anomalies - narrow panel v8.64 ZNF865 Ida Ertmanska commented on gene: ZNF865: This gene is more appropriate for the Malformations of cortical development panel. Added curated_removed tag.
Ataxia and cerebellar anomalies - narrow panel v8.64 ZNF865 Ida Ertmanska Classified gene: ZNF865 as No list
Ataxia and cerebellar anomalies - narrow panel v8.64 ZNF865 Ida Ertmanska Gene: znf865 has been removed from the panel.
Ataxia and cerebellar anomalies - narrow panel v8.63 ZNF865 Ida Ertmanska Tag curated_removed tag was added to gene: ZNF865.
Ataxia and cerebellar anomalies - narrow panel v8.63 ZNF865 Ida Ertmanska Tag Q4_25_promote_green was removed from gene: ZNF865.
Fetal anomalies v6.150 SGCG Arina Puzriakova edited their review of gene: SGCG: Changed rating: RED
Fetal anomalies v6.150 ACVR2B Arina Puzriakova edited their review of gene: ACVR2B: Changed rating: RED
Fetal anomalies v6.150 ZPR1 Arina Puzriakova edited their review of gene: ZPR1: Changed rating: GREEN
Fetal anomalies v6.150 ZNF668 Arina Puzriakova edited their review of gene: ZNF668: Changed rating: GREEN
Fetal anomalies v6.150 ZBTB7A Arina Puzriakova edited their review of gene: ZBTB7A: Changed rating: GREEN
Fetal anomalies v6.150 YY1AP1 Arina Puzriakova edited their review of gene: YY1AP1: Changed rating: GREEN
Fetal anomalies v6.150 WNK3 Arina Puzriakova edited their review of gene: WNK3: Changed rating: GREEN
Fetal anomalies v6.150 VPS51 Arina Puzriakova edited their review of gene: VPS51: Changed rating: GREEN
Fetal anomalies v6.150 VPS50 Arina Puzriakova edited their review of gene: VPS50: Changed rating: GREEN
Fetal anomalies v6.150 VPS33A Arina Puzriakova edited their review of gene: VPS33A: Changed rating: GREEN
Fetal anomalies v6.150 UGGT1 Arina Puzriakova edited their review of gene: UGGT1: Changed rating: GREEN
Fetal anomalies v6.150 TTC26 Arina Puzriakova edited their review of gene: TTC26: Changed rating: GREEN
Fetal anomalies v6.150 TPRKB Arina Puzriakova edited their review of gene: TPRKB: Changed rating: GREEN
Fetal anomalies v6.150 TP53RK Arina Puzriakova edited their review of gene: TP53RK: Changed rating: GREEN
Fetal anomalies v6.150 TMEM251 Arina Puzriakova edited their review of gene: TMEM251: Changed rating: GREEN
Fetal anomalies v6.150 TMEM17 Arina Puzriakova edited their review of gene: TMEM17: Changed rating: GREEN
Fetal anomalies v6.150 TMEM167A Arina Puzriakova edited their review of gene: TMEM167A: Changed rating: GREEN
Fetal anomalies v6.150 THUMPD1 Arina Puzriakova edited their review of gene: THUMPD1: Changed rating: GREEN
Fetal anomalies v6.150 TASP1 Arina Puzriakova edited their review of gene: TASP1: Changed rating: GREEN
Fetal anomalies v6.150 SOX4 Arina Puzriakova edited their review of gene: SOX4: Changed rating: GREEN
Fetal anomalies v6.150 SMG8 Arina Puzriakova edited their review of gene: SMG8: Changed rating: GREEN
Fetal anomalies v6.150 SMC5 Arina Puzriakova edited their review of gene: SMC5: Changed rating: GREEN
Fetal anomalies v6.150 SMARCC2 Arina Puzriakova edited their review of gene: SMARCC2: Changed rating: GREEN
Fetal anomalies v6.150 SLF2 Arina Puzriakova edited their review of gene: SLF2: Changed rating: GREEN
Fetal anomalies v6.150 SLC5A6 Arina Puzriakova edited their review of gene: SLC5A6: Changed rating: GREEN
Fetal anomalies v6.150 SKOR2 Arina Puzriakova edited their review of gene: SKOR2: Changed rating: GREEN
Fetal anomalies v6.150 SIX2 Arina Puzriakova edited their review of gene: SIX2: Changed rating: GREEN
Fetal anomalies v6.150 SCNM1 Arina Puzriakova edited their review of gene: SCNM1: Changed rating: GREEN
Fetal anomalies v6.150 SATB1 Arina Puzriakova edited their review of gene: SATB1: Changed rating: GREEN
Fetal anomalies v6.150 SART3 Arina Puzriakova edited their review of gene: SART3: Changed rating: GREEN
Fetal anomalies v6.150 RSG1 Arina Puzriakova edited their review of gene: RSG1: Changed rating: GREEN
Fetal anomalies v6.150 RNU7-1 Arina Puzriakova edited their review of gene: RNU7-1: Changed rating: GREEN
Fetal anomalies v6.150 RHOBTB2 Arina Puzriakova edited their review of gene: RHOBTB2: Changed rating: GREEN
Fetal anomalies v6.150 RBBP5 Arina Puzriakova edited their review of gene: RBBP5: Changed rating: GREEN
Fetal anomalies v6.150 RALGAPA1 Arina Puzriakova edited their review of gene: RALGAPA1: Changed rating: GREEN
Fetal anomalies v6.150 RALA Arina Puzriakova edited their review of gene: RALA: Changed rating: GREEN
Fetal anomalies v6.150 PRKCI Arina Puzriakova edited their review of gene: PRKCI: Changed rating: GREEN
Fetal anomalies v6.150 PPP1R21 Arina Puzriakova edited their review of gene: PPP1R21: Changed rating: GREEN
Fetal anomalies v6.150 PLXNA1 Arina Puzriakova edited their review of gene: PLXNA1: Changed rating: GREEN
Fetal anomalies v6.150 PIGU Arina Puzriakova edited their review of gene: PIGU: Changed rating: GREEN
Fetal anomalies v6.150 PIGK Arina Puzriakova edited their review of gene: PIGK: Changed rating: GREEN
Fetal anomalies v6.150 PIGB Arina Puzriakova edited their review of gene: PIGB: Changed rating: GREEN
Fetal anomalies v6.150 PDIA6 Arina Puzriakova edited their review of gene: PDIA6: Changed rating: GREEN
Fetal anomalies v6.150 NUP133 Arina Puzriakova edited their review of gene: NUP133: Changed rating: GREEN
Fetal anomalies v6.150 NR6A1 Arina Puzriakova edited their review of gene: NR6A1: Changed rating: GREEN
Fetal anomalies v6.150 MYLPF Arina Puzriakova edited their review of gene: MYLPF: Changed rating: GREEN
Fetal anomalies v6.150 LSM1 Arina Puzriakova edited their review of gene: LSM1: Changed rating: GREEN
Fetal anomalies v6.150 LRRC32 Arina Puzriakova edited their review of gene: LRRC32: Changed rating: GREEN
Fetal anomalies v6.150 LMOD2 Arina Puzriakova edited their review of gene: LMOD2: Changed rating: GREEN
Fetal anomalies v6.150 LEF1 Arina Puzriakova edited their review of gene: LEF1: Changed rating: GREEN
Fetal anomalies v6.150 KDM4B Arina Puzriakova edited their review of gene: KDM4B: Changed rating: GREEN
Fetal anomalies v6.150 INPP4A Arina Puzriakova edited their review of gene: INPP4A: Changed rating: GREEN
Fetal anomalies v6.150 IL6ST Arina Puzriakova edited their review of gene: IL6ST: Changed rating: GREEN
Fetal anomalies v6.150 IFT57 Arina Puzriakova edited their review of gene: IFT57: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPR Arina Puzriakova edited their review of gene: HNRNPR: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPH1 Arina Puzriakova edited their review of gene: HNRNPH1: Changed rating: GREEN
Fetal anomalies v6.150 HERC2 Arina Puzriakova edited their review of gene: HERC2: Changed rating: GREEN
Fetal anomalies v6.150 H3F3B Arina Puzriakova edited their review of gene: H3F3B: Changed rating: GREEN
Fetal anomalies v6.150 GTF3C3 Arina Puzriakova edited their review of gene: GTF3C3: Changed rating: GREEN
Fetal anomalies v6.150 GON7 Arina Puzriakova edited their review of gene: GON7: Changed rating: GREEN
Fetal anomalies v6.150 GINS3 Arina Puzriakova edited their review of gene: GINS3: Changed rating: GREEN
Fetal anomalies v6.150 FGF4 Arina Puzriakova edited their review of gene: FGF4: Changed rating: GREEN
Fetal anomalies v6.150 FEM1B Arina Puzriakova edited their review of gene: FEM1B: Changed rating: GREEN
Fetal anomalies v6.150 FBXW7 Arina Puzriakova edited their review of gene: FBXW7: Changed rating: GREEN
Fetal anomalies v6.150 FBXO28 Arina Puzriakova edited their review of gene: FBXO28: Changed rating: GREEN
Fetal anomalies v6.150 EMC10 Arina Puzriakova edited their review of gene: EMC10: Changed rating: GREEN
Fetal anomalies v6.150 EIF4A2 Arina Puzriakova edited their review of gene: EIF4A2: Changed rating: GREEN
Fetal anomalies v6.150 DPH5 Arina Puzriakova edited their review of gene: DPH5: Changed rating: GREEN
Fetal anomalies v6.150 DOT1L Arina Puzriakova edited their review of gene: DOT1L: Changed rating: GREEN
Fetal anomalies v6.150 CSDE1 Arina Puzriakova edited their review of gene: CSDE1: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKA Arina Puzriakova edited their review of gene: CLCNKA: Changed rating: GREEN
Fetal anomalies v6.150 CLCN3 Arina Puzriakova edited their review of gene: CLCN3: Changed rating: GREEN
Fetal anomalies v6.150 CEP76 Arina Puzriakova edited their review of gene: CEP76: Changed rating: GREEN
Fetal anomalies v6.150 CDC42BPB Arina Puzriakova edited their review of gene: CDC42BPB: Changed rating: GREEN
Fetal anomalies v6.150 CDC42 Arina Puzriakova edited their review of gene: CDC42: Changed rating: GREEN
Fetal anomalies v6.150 CCDC88A Arina Puzriakova edited their review of gene: CCDC88A: Changed rating: GREEN
Fetal anomalies v6.150 CCDC32 Arina Puzriakova edited their review of gene: CCDC32: Changed rating: GREEN
Fetal anomalies v6.150 CBFB Arina Puzriakova edited their review of gene: CBFB: Changed rating: GREEN
Fetal anomalies v6.150 CAMSAP1 Arina Puzriakova edited their review of gene: CAMSAP1: Changed rating: GREEN
Fetal anomalies v6.150 BRF2 Arina Puzriakova edited their review of gene: BRF2: Changed rating: GREEN
Fetal anomalies v6.150 BBIP1 Arina Puzriakova edited their review of gene: BBIP1: Changed rating: GREEN
Fetal anomalies v6.150 ARF3 Arina Puzriakova edited their review of gene: ARF3: Changed rating: GREEN
Fetal anomalies v6.150 ADAT3 Arina Puzriakova edited their review of gene: ADAT3: Changed rating: GREEN
Fetal anomalies v6.150 ABI2 Arina Puzriakova edited their review of gene: ABI2: Changed rating: GREEN
Fetal anomalies v6.150 YRDC Arina Puzriakova edited their review of gene: YRDC: Changed rating: GREEN
Fetal anomalies v6.150 WSB2 Arina Puzriakova edited their review of gene: WSB2: Changed rating: GREEN
Fetal anomalies v6.150 WDR91 Arina Puzriakova edited their review of gene: WDR91: Changed rating: GREEN
Fetal anomalies v6.150 TUBGCP2 Arina Puzriakova edited their review of gene: TUBGCP2: Changed rating: GREEN
Fetal anomalies v6.150 TRIO Arina Puzriakova edited their review of gene: TRIO: Changed rating: GREEN
Fetal anomalies v6.150 SHROOM4 Arina Puzriakova edited their review of gene: SHROOM4: Changed rating: GREEN
Fetal anomalies v6.150 SELENON Arina Puzriakova edited their review of gene: SELENON: Changed rating: GREEN
Fetal anomalies v6.150 PDCD2 Arina Puzriakova edited their review of gene: PDCD2: Changed rating: GREEN
Fetal anomalies v6.150 NOVA2 Arina Puzriakova edited their review of gene: NOVA2: Changed rating: GREEN
Fetal anomalies v6.150 MAST1 Arina Puzriakova edited their review of gene: MAST1: Changed rating: GREEN
Fetal anomalies v6.150 MAPK8IP3 Arina Puzriakova edited their review of gene: MAPK8IP3: Changed rating: GREEN
Fetal anomalies v6.150 KIAA0556 Arina Puzriakova edited their review of gene: KIAA0556: Changed rating: GREEN
Fetal anomalies v6.150 KCNJ8 Arina Puzriakova edited their review of gene: KCNJ8: Changed rating: GREEN
Fetal anomalies v6.150 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: Changed rating: GREEN
Fetal anomalies v6.150 GPKOW Arina Puzriakova edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.150 GATAD2B Arina Puzriakova edited their review of gene: GATAD2B: Changed rating: GREEN
Fetal anomalies v6.150 FOXI3 Arina Puzriakova edited their review of gene: FOXI3: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKB Arina Puzriakova edited their review of gene: CLCNKB: Changed rating: GREEN
Fetal anomalies v6.150 CACHD1 Arina Puzriakova edited their review of gene: CACHD1: Changed rating: GREEN
Fetal anomalies v6.150 BRF1 Arina Puzriakova edited their review of gene: BRF1: Changed rating: GREEN
Fetal anomalies v6.150 B9D1 Arina Puzriakova edited their review of gene: B9D1: Changed rating: GREEN
Fetal anomalies v6.150 ASXL2 Arina Puzriakova edited their review of gene: ASXL2: Changed rating: GREEN
Fetal anomalies v6.150 ANKLE2 Arina Puzriakova edited their review of gene: ANKLE2: Changed rating: GREEN
Fetal anomalies v6.150 ACVR1 Arina Puzriakova edited their review of gene: ACVR1: Changed rating: GREEN
Fetal anomalies v6.149 SGCG Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR2B Arina Puzriakova commented on gene: ACVR2B: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZPR1 Arina Puzriakova commented on gene: ZPR1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZNF668 Arina Puzriakova commented on gene: ZNF668: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZBTB7A Arina Puzriakova commented on gene: ZBTB7A: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 YY1AP1 Arina Puzriakova commented on gene: YY1AP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WNK3 Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS51 Arina Puzriakova commented on gene: VPS51: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS50 Arina Puzriakova commented on gene: VPS50: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS33A Arina Puzriakova commented on gene: VPS33A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 UGGT1 Arina Puzriakova commented on gene: UGGT1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TTC26 Arina Puzriakova commented on gene: TTC26: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TPRKB Arina Puzriakova commented on gene: TPRKB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TP53RK Arina Puzriakova commented on gene: TP53RK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM251 Arina Puzriakova commented on gene: TMEM251: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM17 Arina Puzriakova commented on gene: TMEM17: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM167A Arina Puzriakova commented on gene: TMEM167A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 THUMPD1 Arina Puzriakova commented on gene: THUMPD1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TASP1 Arina Puzriakova commented on gene: TASP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SOX4 Arina Puzriakova commented on gene: SOX4: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMG8 Arina Puzriakova commented on gene: SMG8: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMC5 Arina Puzriakova commented on gene: SMC5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMARCC2 Arina Puzriakova commented on gene: SMARCC2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLF2 Arina Puzriakova commented on gene: SLF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLC5A6 Arina Puzriakova commented on gene: SLC5A6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SKOR2 Arina Puzriakova commented on gene: SKOR2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SIX2 Arina Puzriakova commented on gene: SIX2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SCNM1 Arina Puzriakova commented on gene: SCNM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SATB1 Arina Puzriakova commented on gene: SATB1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SART3 Arina Puzriakova commented on gene: SART3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RSG1 Arina Puzriakova commented on gene: RSG1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RNU7-1 Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RHOBTB2 Arina Puzriakova commented on gene: RHOBTB2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RBBP5 Arina Puzriakova commented on gene: RBBP5: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALGAPA1 Arina Puzriakova commented on gene: RALGAPA1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALA Arina Puzriakova commented on gene: RALA: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRKCI Arina Puzriakova commented on gene: PRKCI: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRDM13 Arina Puzriakova commented on gene: PRDM13: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R21 Arina Puzriakova commented on gene: PPP1R21: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PLXNA1 Arina Puzriakova commented on gene: PLXNA1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGU Arina Puzriakova commented on gene: PIGU: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGK Arina Puzriakova commented on gene: PIGK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGB Arina Puzriakova commented on gene: PIGB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDIA6 Arina Puzriakova commented on gene: PDIA6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NUP133 Arina Puzriakova commented on gene: NUP133: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NR6A1 Arina Puzriakova commented on gene: NR6A1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MYLPF Arina Puzriakova commented on gene: MYLPF: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LSM1 Arina Puzriakova commented on gene: LSM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LRRC32 Arina Puzriakova commented on gene: LRRC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LMOD2 Arina Puzriakova commented on gene: LMOD2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LEF1 Arina Puzriakova commented on gene: LEF1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KDM4B Arina Puzriakova commented on gene: KDM4B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 INPP4A Arina Puzriakova commented on gene: INPP4A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IFT57 Arina Puzriakova commented on gene: IFT57: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPR Arina Puzriakova commented on gene: HNRNPR: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPH1 Arina Puzriakova commented on gene: HNRNPH1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HERC2 Arina Puzriakova commented on gene: HERC2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 H3F3B Arina Puzriakova commented on gene: H3F3B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GTF3C3 Arina Puzriakova commented on gene: GTF3C3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GON7 Arina Puzriakova commented on gene: GON7: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GINS3 Arina Puzriakova commented on gene: GINS3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FGF4 Arina Puzriakova commented on gene: FGF4: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FEM1B Arina Puzriakova commented on gene: FEM1B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXW7 Arina Puzriakova commented on gene: FBXW7: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXO28 Arina Puzriakova commented on gene: FBXO28: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EMC10 Arina Puzriakova commented on gene: EMC10: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EIF4A2 Arina Puzriakova commented on gene: EIF4A2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DPH5 Arina Puzriakova commented on gene: DPH5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DOT1L Arina Puzriakova commented on gene: DOT1L: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DHX37 Arina Puzriakova commented on gene: DHX37: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CSDE1 Arina Puzriakova commented on gene: CSDE1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKA Arina Puzriakova commented on gene: CLCNKA: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCN3 Arina Puzriakova commented on gene: CLCN3: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CEP76 Arina Puzriakova commented on gene: CEP76: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42BPB Arina Puzriakova commented on gene: CDC42BPB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42 Arina Puzriakova commented on gene: CDC42: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC88A Arina Puzriakova commented on gene: CCDC88A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC32 Arina Puzriakova commented on gene: CCDC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CBFB Arina Puzriakova commented on gene: CBFB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CAMSAP1 Arina Puzriakova commented on gene: CAMSAP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF2 Arina Puzriakova commented on gene: BRF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BBIP1 Arina Puzriakova commented on gene: BBIP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ARF3 Arina Puzriakova commented on gene: ARF3: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ADAT3 Arina Puzriakova commented on gene: ADAT3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ABI2 Arina Puzriakova commented on gene: ABI2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 YRDC Arina Puzriakova commented on gene: YRDC: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WSB2 Arina Puzriakova commented on gene: WSB2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WDR91 Arina Puzriakova commented on gene: WDR91: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TUBGCP2 Arina Puzriakova commented on gene: TUBGCP2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TRIO Arina Puzriakova commented on gene: TRIO: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SNAPIN Arina Puzriakova commented on gene: SNAPIN: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SELENON Arina Puzriakova commented on gene: SELENON: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PTBP1 Arina Puzriakova commented on gene: PTBP1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDCD2 Arina Puzriakova commented on gene: PDCD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NSD2 Arina Puzriakova commented on gene: NSD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NOVA2 Arina Puzriakova commented on gene: NOVA2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MNS1 Arina Puzriakova commented on gene: MNS1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAST1 Arina Puzriakova commented on gene: MAST1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAPK8IP3 Arina Puzriakova commented on gene: MAPK8IP3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KCNJ8 Arina Puzriakova commented on gene: KCNJ8: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HMGB1 Arina Puzriakova commented on gene: HMGB1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GPKOW Arina Puzriakova commented on gene: GPKOW: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GATAD2B Arina Puzriakova commented on gene: GATAD2B: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FOXI3 Arina Puzriakova commented on gene: FOXI3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKB Arina Puzriakova commented on gene: CLCNKB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CACHD1 Arina Puzriakova commented on gene: CACHD1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF1 Arina Puzriakova commented on gene: BRF1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 B9D1 Arina Puzriakova commented on gene: B9D1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ASXL2 Arina Puzriakova commented on gene: ASXL2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ANKLE2 Arina Puzriakova commented on gene: ANKLE2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR1 Arina Puzriakova commented on gene: ACVR1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 ZPR1 Arina Puzriakova commented on gene: ZPR1
Fetal anomalies v6.148 ZNF668 Arina Puzriakova commented on gene: ZNF668
Fetal anomalies v6.148 ZDHHC9 Arina Puzriakova commented on gene: ZDHHC9
Fetal anomalies v6.148 ZBTB7A Arina Puzriakova commented on gene: ZBTB7A
Fetal anomalies v6.148 YY1AP1 Arina Puzriakova commented on gene: YY1AP1
Fetal anomalies v6.148 YWHAE Arina Puzriakova commented on gene: YWHAE
Fetal anomalies v6.148 YRDC Arina Puzriakova commented on gene: YRDC
Fetal anomalies v6.148 WSB2 Arina Puzriakova commented on gene: WSB2
Fetal anomalies v6.148 WNK3 Arina Puzriakova commented on gene: WNK3
Fetal anomalies v6.148 WDR91 Arina Puzriakova commented on gene: WDR91: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 WDR11 Arina Puzriakova commented on gene: WDR11
Fetal anomalies v6.148 WASHC3 Arina Puzriakova commented on gene: WASHC3
Fetal anomalies v6.148 VPS51 Arina Puzriakova commented on gene: VPS51
Fetal anomalies v6.148 VPS50 Arina Puzriakova commented on gene: VPS50
Fetal anomalies v6.148 VPS33A Arina Puzriakova commented on gene: VPS33A
Fetal anomalies v6.148 UGGT1 Arina Puzriakova commented on gene: UGGT1
Fetal anomalies v6.148 TUBGCP2 Arina Puzriakova commented on gene: TUBGCP2
Fetal anomalies v6.148 TTC26 Arina Puzriakova commented on gene: TTC26
Fetal anomalies v6.148 TRPM4 Arina Puzriakova commented on gene: TRPM4
Fetal anomalies v6.148 TRIO Arina Puzriakova commented on gene: TRIO
Fetal anomalies v6.148 TPRKB Arina Puzriakova commented on gene: TPRKB
Fetal anomalies v6.148 TP53RK Arina Puzriakova commented on gene: TP53RK
Fetal anomalies v6.148 TMPRSS7 Arina Puzriakova commented on gene: TMPRSS7
Fetal anomalies v6.148 TMEM263 Arina Puzriakova commented on gene: TMEM263
Fetal anomalies v6.148 TMEM251 Arina Puzriakova commented on gene: TMEM251
Fetal anomalies v6.148 TMEM17 Arina Puzriakova commented on gene: TMEM17
Fetal anomalies v6.148 TMEM167A Arina Puzriakova commented on gene: TMEM167A
Fetal anomalies v6.148 THUMPD1 Arina Puzriakova commented on gene: THUMPD1
Fetal anomalies v6.148 TH Arina Puzriakova commented on gene: TH
Fetal anomalies v6.148 TEK Arina Puzriakova commented on gene: TEK
Fetal anomalies v6.148 TASP1 Arina Puzriakova commented on gene: TASP1
Fetal anomalies v6.148 TAF13 Arina Puzriakova commented on gene: TAF13
Fetal anomalies v6.148 SPTBN1 Arina Puzriakova commented on gene: SPTBN1
Fetal anomalies v6.148 SPOP Arina Puzriakova commented on gene: SPOP
Fetal anomalies v6.148 SOX4 Arina Puzriakova commented on gene: SOX4
Fetal anomalies v6.148 SNAPIN Arina Puzriakova commented on gene: SNAPIN: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SMG8 Arina Puzriakova commented on gene: SMG8
Fetal anomalies v6.148 SMC5 Arina Puzriakova commented on gene: SMC5
Fetal anomalies v6.148 SMARCC2 Arina Puzriakova commented on gene: SMARCC2
Fetal anomalies v6.148 SMAD5 Arina Puzriakova commented on gene: SMAD5
Fetal anomalies v6.148 SLF2 Arina Puzriakova commented on gene: SLF2
Fetal anomalies v6.148 SLC9A6 Arina Puzriakova commented on gene: SLC9A6
Fetal anomalies v6.148 SLC5A6 Arina Puzriakova commented on gene: SLC5A6
Fetal anomalies v6.148 SLC13A1 Arina Puzriakova commented on gene: SLC13A1
Fetal anomalies v6.148 SKOR2 Arina Puzriakova commented on gene: SKOR2
Fetal anomalies v6.148 SIX2 Arina Puzriakova commented on gene: SIX2
Fetal anomalies v6.148 SIX1 Arina Puzriakova commented on gene: SIX1
Fetal anomalies v6.148 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SGCG Arina Puzriakova commented on gene: SGCG: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SGCD Arina Puzriakova commented on gene: SGCD
Fetal anomalies v6.148 SGCB Arina Puzriakova commented on gene: SGCB
Fetal anomalies v6.148 SGCA Arina Puzriakova commented on gene: SGCA
Fetal anomalies v6.148 SF1 Arina Puzriakova commented on gene: SF1
Fetal anomalies v6.148 SEPHS1 Arina Puzriakova commented on gene: SEPHS1
Fetal anomalies v6.148 SELENON Arina Puzriakova commented on gene: SELENON
Fetal anomalies v6.148 SCNM1 Arina Puzriakova commented on gene: SCNM1
Fetal anomalies v6.148 SATB1 Arina Puzriakova commented on gene: SATB1
Fetal anomalies v6.148 SART3 Arina Puzriakova commented on gene: SART3
Fetal anomalies v6.148 RSG1 Arina Puzriakova commented on gene: RSG1
Fetal anomalies v6.148 RREB1 Arina Puzriakova commented on gene: RREB1
Fetal anomalies v6.148 ROBO4 Arina Puzriakova commented on gene: ROBO4
Fetal anomalies v6.148 RNU7-1 Arina Puzriakova commented on gene: RNU7-1
Fetal anomalies v6.148 RNU5A-1 Arina Puzriakova commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 RNU2-2P Arina Puzriakova commented on gene: RNU2-2P
Fetal anomalies v6.148 RNPC3 Arina Puzriakova commented on gene: RNPC3
Fetal anomalies v6.148 RNF13 Arina Puzriakova commented on gene: RNF13
Fetal anomalies v6.148 RHOBTB2 Arina Puzriakova commented on gene: RHOBTB2
Fetal anomalies v6.148 RBBP5 Arina Puzriakova commented on gene: RBBP5
Fetal anomalies v6.148 RASA2 Arina Puzriakova commented on gene: RASA2
Fetal anomalies v6.148 RALGAPA1 Arina Puzriakova commented on gene: RALGAPA1
Fetal anomalies v6.148 RALA Arina Puzriakova commented on gene: RALA
Fetal anomalies v6.148 RAD51C Arina Puzriakova commented on gene: RAD51C
Fetal anomalies v6.148 RAB35 Arina Puzriakova commented on gene: RAB35
Fetal anomalies v6.148 PURA Arina Puzriakova commented on gene: PURA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PTBP1 Arina Puzriakova commented on gene: PTBP1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PRKCI Arina Puzriakova commented on gene: PRKCI
Fetal anomalies v6.148 PRDM13 Arina Puzriakova commented on gene: PRDM13: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PPP1R21 Arina Puzriakova commented on gene: PPP1R21
Fetal anomalies v6.148 PPP1R13L Arina Puzriakova commented on gene: PPP1R13L
Fetal anomalies v6.148 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 POLA1 Arina Puzriakova commented on gene: POLA1
Fetal anomalies v6.148 PMS2 Arina Puzriakova commented on gene: PMS2
Fetal anomalies v6.148 PLXNB3 Arina Puzriakova commented on gene: PLXNB3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PLXNB2 Arina Puzriakova commented on gene: PLXNB2
Fetal anomalies v6.148 PLXNA1 Arina Puzriakova commented on gene: PLXNA1
Fetal anomalies v6.148 PLOD3 Arina Puzriakova commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PIGU Arina Puzriakova commented on gene: PIGU
Fetal anomalies v6.148 PIGK Arina Puzriakova commented on gene: PIGK
Fetal anomalies v6.148 PIGB Arina Puzriakova commented on gene: PIGB
Fetal anomalies v6.148 PDIA6 Arina Puzriakova commented on gene: PDIA6
Fetal anomalies v6.148 PDCD6IP Arina Puzriakova commented on gene: PDCD6IP
Fetal anomalies v6.148 PDCD2 Arina Puzriakova commented on gene: PDCD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PCLO Arina Puzriakova commented on gene: PCLO: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PATJ Arina Puzriakova commented on gene: PATJ: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PACSIN3 Arina Puzriakova commented on gene: PACSIN3
Fetal anomalies v6.148 NUP133 Arina Puzriakova commented on gene: NUP133
Fetal anomalies v6.148 NUDCD2 Arina Puzriakova commented on gene: NUDCD2
Fetal anomalies v6.148 NSD2 Arina Puzriakova commented on gene: NSD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 NR6A1 Arina Puzriakova commented on gene: NR6A1
Fetal anomalies v6.148 NOVA2 Arina Puzriakova commented on gene: NOVA2
Fetal anomalies v6.148 NOTCH3 Arina Puzriakova commented on gene: NOTCH3
Fetal anomalies v6.148 MYLPF Arina Puzriakova commented on gene: MYLPF
Fetal anomalies v6.148 MSH6 Arina Puzriakova commented on gene: MSH6
Fetal anomalies v6.148 MSH2 Arina Puzriakova commented on gene: MSH2
Fetal anomalies v6.148 MNS1 Arina Puzriakova commented on gene: MNS1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 MMP9 Arina Puzriakova commented on gene: MMP9
Fetal anomalies v6.148 MLH1 Arina Puzriakova commented on gene: MLH1
Fetal anomalies v6.148 MAST1 Arina Puzriakova commented on gene: MAST1
Fetal anomalies v6.148 MAPK8IP3 Arina Puzriakova commented on gene: MAPK8IP3
Fetal anomalies v6.148 LSM1 Arina Puzriakova commented on gene: LSM1
Fetal anomalies v6.148 LRRC32 Arina Puzriakova commented on gene: LRRC32
Fetal anomalies v6.148 LMOD2 Arina Puzriakova commented on gene: LMOD2
Fetal anomalies v6.148 LINC01578 Arina Puzriakova commented on gene: LINC01578: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 LHX2 Arina Puzriakova commented on gene: LHX2
Fetal anomalies v6.148 LEF1 Arina Puzriakova commented on gene: LEF1
Fetal anomalies v6.148 LDB3 Arina Puzriakova commented on gene: LDB3
Fetal anomalies v6.148 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 KDM4B Arina Puzriakova commented on gene: KDM4B
Fetal anomalies v6.148 KCNQ5 Arina Puzriakova commented on gene: KCNQ5
Fetal anomalies v6.148 KCNN4 Arina Puzriakova commented on gene: KCNN4
Fetal anomalies v6.148 KCNJ8 Arina Puzriakova commented on gene: KCNJ8
Fetal anomalies v6.148 INPP4A Arina Puzriakova commented on gene: INPP4A
Fetal anomalies v6.148 IL6ST Arina Puzriakova commented on gene: IL6ST
Fetal anomalies v6.148 IKZF2 Arina Puzriakova commented on gene: IKZF2
Fetal anomalies v6.148 IFT57 Arina Puzriakova commented on gene: IFT57
Fetal anomalies v6.148 HNRNPR Arina Puzriakova commented on gene: HNRNPR
Fetal anomalies v6.148 HNRNPH1 Arina Puzriakova commented on gene: HNRNPH1
Fetal anomalies v6.148 HMGB1 Arina Puzriakova commented on gene: HMGB1
Fetal anomalies v6.148 HEY2 Arina Puzriakova commented on gene: HEY2
Fetal anomalies v6.148 HERC2 Arina Puzriakova commented on gene: HERC2
Fetal anomalies v6.148 HDAC2 Arina Puzriakova commented on gene: HDAC2
Fetal anomalies v6.148 HACD1 Arina Puzriakova commented on gene: HACD1
Fetal anomalies v6.148 H3F3B Arina Puzriakova commented on gene: H3F3B
Fetal anomalies v6.148 GTF3C3 Arina Puzriakova commented on gene: GTF3C3
Fetal anomalies v6.148 GPKOW Arina Puzriakova commented on gene: GPKOW
Fetal anomalies v6.148 GON7 Arina Puzriakova commented on gene: GON7
Fetal anomalies v6.148 GNPNAT1 Arina Puzriakova commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 GINS3 Arina Puzriakova commented on gene: GINS3
Fetal anomalies v6.148 GATAD2B Arina Puzriakova commented on gene: GATAD2B
Fetal anomalies v6.148 FOXI3 Arina Puzriakova commented on gene: FOXI3
Fetal anomalies v6.148 FIBP Arina Puzriakova commented on gene: FIBP
Fetal anomalies v6.148 FGF4 Arina Puzriakova commented on gene: FGF4
Fetal anomalies v6.148 FEM1B Arina Puzriakova commented on gene: FEM1B
Fetal anomalies v6.148 FBXW7 Arina Puzriakova commented on gene: FBXW7
Fetal anomalies v6.148 FBXO28 Arina Puzriakova commented on gene: FBXO28
Fetal anomalies v6.148 FBXO11 Arina Puzriakova commented on gene: FBXO11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC1 Arina Puzriakova commented on gene: EXOSC1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ETV2 Arina Puzriakova commented on gene: ETV2
Fetal anomalies v6.148 ENPP5 Arina Puzriakova commented on gene: ENPP5
Fetal anomalies v6.148 EMC10 Arina Puzriakova commented on gene: EMC10
Fetal anomalies v6.148 ELFN1 Arina Puzriakova commented on gene: ELFN1
Fetal anomalies v6.148 EIF4A2 Arina Puzriakova commented on gene: EIF4A2
Fetal anomalies v6.148 EDN1 Arina Puzriakova commented on gene: EDN1
Fetal anomalies v6.148 EDA Arina Puzriakova commented on gene: EDA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 DPH5 Arina Puzriakova commented on gene: DPH5
Fetal anomalies v6.148 DOT1L Arina Puzriakova commented on gene: DOT1L
Fetal anomalies v6.148 DNAH14 Arina Puzriakova commented on gene: DNAH14
Fetal anomalies v6.148 DLG3 Arina Puzriakova commented on gene: DLG3
Fetal anomalies v6.148 DIP2C Arina Puzriakova commented on gene: DIP2C
Fetal anomalies v6.148 DHX37 Arina Puzriakova commented on gene: DHX37: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 DHRS3 Arina Puzriakova commented on gene: DHRS3
Fetal anomalies v6.148 DHPS Arina Puzriakova commented on gene: DHPS
Fetal anomalies v6.148 DDX23 Arina Puzriakova commented on gene: DDX23
Fetal anomalies v6.148 DDR1 Arina Puzriakova commented on gene: DDR1
Fetal anomalies v6.148 CSDE1 Arina Puzriakova commented on gene: CSDE1
Fetal anomalies v6.148 CRELD1 Arina Puzriakova commented on gene: CRELD1
Fetal anomalies v6.148 CPOX Arina Puzriakova commented on gene: CPOX
Fetal anomalies v6.148 CLCNKB Arina Puzriakova commented on gene: CLCNKB
Fetal anomalies v6.148 CLCNKA Arina Puzriakova commented on gene: CLCNKA
Fetal anomalies v6.148 CLCN3 Arina Puzriakova commented on gene: CLCN3
Fetal anomalies v6.148 CHD8 Arina Puzriakova commented on gene: CHD8
Fetal anomalies v6.148 CEP76 Arina Puzriakova commented on gene: CEP76
Fetal anomalies v6.148 CEP162 Arina Puzriakova commented on gene: CEP162
Fetal anomalies v6.148 CDX1 Arina Puzriakova commented on gene: CDX1
Fetal anomalies v6.148 CDH11 Arina Puzriakova commented on gene: CDH11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CDC42BPB Arina Puzriakova commented on gene: CDC42BPB
Fetal anomalies v6.148 CDC42 Arina Puzriakova commented on gene: CDC42
Fetal anomalies v6.148 CDC40 Arina Puzriakova commented on gene: CDC40: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCT8 Arina Puzriakova commented on gene: CCT8: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCP110 Arina Puzriakova commented on gene: CCP110: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCM2L Arina Puzriakova commented on gene: CCM2L
Fetal anomalies v6.148 CCDC88A Arina Puzriakova commented on gene: CCDC88A
Fetal anomalies v6.148 CCDC32 Arina Puzriakova commented on gene: CCDC32
Fetal anomalies v6.148 CBFB Arina Puzriakova commented on gene: CBFB
Fetal anomalies v6.148 CAMSAP1 Arina Puzriakova commented on gene: CAMSAP1
Fetal anomalies v6.148 CACHD1 Arina Puzriakova commented on gene: CACHD1
Fetal anomalies v6.148 BUB1 Arina Puzriakova commented on gene: BUB1
Fetal anomalies v6.148 BRWD3 Arina Puzriakova commented on gene: BRWD3
Fetal anomalies v6.148 BRF2 Arina Puzriakova commented on gene: BRF2
Fetal anomalies v6.148 BRF1 Arina Puzriakova commented on gene: BRF1
Fetal anomalies v6.148 BNIP1 Arina Puzriakova commented on gene: BNIP1
Fetal anomalies v6.148 BBIP1 Arina Puzriakova commented on gene: BBIP1
Fetal anomalies v6.148 BAZ2B Arina Puzriakova commented on gene: BAZ2B
Fetal anomalies v6.148 B9D1 Arina Puzriakova commented on gene: B9D1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ATP6V0A1 Arina Puzriakova commented on gene: ATP6V0A1
Fetal anomalies v6.148 ASXL2 Arina Puzriakova commented on gene: ASXL2
Fetal anomalies v6.148 ARHGEF40 Arina Puzriakova commented on gene: ARHGEF40
Fetal anomalies v6.148 ARHGEF17 Arina Puzriakova commented on gene: ARHGEF17: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ARF3 Arina Puzriakova commented on gene: ARF3
Fetal anomalies v6.148 ARAF Arina Puzriakova commented on gene: ARAF
Fetal anomalies v6.148 ANKRD17 Arina Puzriakova commented on gene: ANKRD17
Fetal anomalies v6.148 ANKLE2 Arina Puzriakova commented on gene: ANKLE2
Fetal anomalies v6.148 AMOT Arina Puzriakova commented on gene: AMOT
Fetal anomalies v6.148 ALKBH8 Arina Puzriakova commented on gene: ALKBH8
Fetal anomalies v6.148 AIMP2 Arina Puzriakova commented on gene: AIMP2
Fetal anomalies v6.148 AIMP1 Arina Puzriakova commented on gene: AIMP1
Fetal anomalies v6.148 ADAT3 Arina Puzriakova commented on gene: ADAT3
Fetal anomalies v6.148 ADAMTS9 Arina Puzriakova commented on gene: ADAMTS9
Fetal anomalies v6.148 ADAMTS13 Arina Puzriakova commented on gene: ADAMTS13
Fetal anomalies v6.148 ACVR2B Arina Puzriakova commented on gene: ACVR2B
Fetal anomalies v6.148 ACVR1 Arina Puzriakova commented on gene: ACVR1
Fetal anomalies v6.148 ABI2 Arina Puzriakova commented on gene: ABI2
Fetal anomalies v6.147 ZPR1 Soo-Mi Park reviewed gene: ZPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29851065, 40776660; Phenotypes: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZNF668 Soo-Mi Park reviewed gene: ZNF668: Rating: GREEN; Mode of pathogenicity: ; Publications: 34313816; Phenotypes: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZDHHC9 Vicki Harrison reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ZBTB7A Soo-Mi Park reviewed gene: ZBTB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34515416; Phenotypes: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YY1AP1 Soo-Mi Park reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939641, 31270375, 37698238, 31633303, 30556293, 37323195; Phenotypes: Grange syndrome, OMIM:602531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 YWHAE Elizabeth Scotchman reviewed gene: YWHAE: Rating: AMBER; Mode of pathogenicity: ; Publications: 29458882, 36433683, 36999555, 28542865; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YRDC Natalie Canham reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 34545459, 31481669; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WSB2 Natalie Chandler reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40374945; Phenotypes: neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WNK3 Soo-Mi Park reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35678782; Phenotypes: Prieto syndrome, OMIM:309610; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 WDR91 Natalie Chandler reviewed gene: WDR91: Rating: GREEN; Mode of pathogenicity: ; Publications: 40550703; Phenotypes: microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WDR11 Tessa Homfray reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: ; Publications: 34413497; Phenotypes: Intellectual developmental disorder, autosomal recessive 78, OMIM:620237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WASHC3 Tessa Homfray reviewed gene: WASHC3: Rating: RED; Mode of pathogenicity: ; Publications: 40129681; Phenotypes: short stature, distinctive facies, and neurodevelopmental abnormalities; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS51 Tessa Homfray reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: ; Publications: 31207318, 30624672, 40565173, 40176246; Phenotypes: Pontocerebellar hypoplasia, type 13, OMIM:618606; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS50 Tessa Homfray reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: ; Publications: 38876772, 34037727; Phenotypes: neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS33A Tessa Homfray reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37628632, 36232726, 28013294; Phenotypes: Mucopolysaccharidosis-plus syndrome, OMIM:617303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 UGGT1 Tessa Homfray reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40267907; Phenotypes: Congenital disorder of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TUBGCP2 Tessa Homfray reviewed gene: TUBGCP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40017707, 40448381, 33458610, 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TTC26 Natalie Chandler reviewed gene: TTC26: Rating: GREEN; Mode of pathogenicity: ; Publications: 32617964, 24596149, 22718903, 31595528, 34177428; Phenotypes: Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TRPM4 Anna de Burca reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 40896669; Phenotypes: Progressive familial heart block, type IB, OMIM:604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TRIO Vicki Harrison reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825, Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TPRKB Natalie Canham reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 38628357; Phenotypes: Galloway-Mowat syndrome 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TP53RK Natalie Canham reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30053862, 28805828, 38628357, 36116039, 36873107; Phenotypes: Galloway-Mowat syndrome 4, OMIM:617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMPRSS7 Soo-Mi Park reviewed gene: TMPRSS7: Rating: AMBER; Mode of pathogenicity: ; Publications: 40796295; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM263 Samantha Doyle reviewed gene: TMEM263: Rating: AMBER; Mode of pathogenicity: ; Publications: 29930570, 34238371, 38241182; Phenotypes: skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM251 Samantha Doyle reviewed gene: TMEM251: Rating: GREEN; Mode of pathogenicity: ; Publications: 40171858, 33252156; Phenotypes: Dysostosis multiplex, Ain-Naz type, OMIM:619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM17 Natalie Chandler reviewed gene: TMEM17: Rating: GREEN; Mode of pathogenicity: ; Publications: 40841990; Phenotypes: Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM167A Natalie Chandler reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: 40924476; Phenotypes: Microcephaly, epilepsy and diabetes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 THUMPD1 Natalie Canham reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35196516; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TH Natalie Canham reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: 40967340; Phenotypes: Segawa syndrome, recessive, OMIM:605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TEK Sarah Graham reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555671, 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TASP1 Natalie Canham reviewed gene: TASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31350873, 35512351, 37474017, 31209944, 29633245; Phenotypes: Suleiman-El-Hattab syndrome, OMIM:618950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TAF13 Vicki Harrison reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 28257693, 40679298; Phenotypes: Intellectual developmental disorder, autosomal recessive 60, OMIM:617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SPTBN1 Vicki Harrison reviewed gene: SPTBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40869952; Phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SPOP Natalie Canham reviewed gene: SPOP: Rating: AMBER; Mode of pathogenicity: ; Publications: 36063898, 40304391, 32109420, 39918173, 36259278; Phenotypes: Nabais Sa-de Vries syndrome, type 1, OMIM:618828, Nabais Sa-de Vries syndrome, type 2, OMIM:618829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SOX4 Natalie Canham reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 35232796, 36834931, 34750527, 38684576, 30661772; Phenotypes: Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SNAPIN Arina Puzriakova reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40930097, 26539891; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMG8 Samantha Doyle reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242396, 34761517, 37194129; Phenotypes: Alzahrani-Kuwahara syndrome, OMIM:619268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMC5 Samantha Doyle reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 2, OMIM:620185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMARCC2 Samantha Doyle reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35796094, 35241061, 39901255, 37551667, 38117302, 40697538; Phenotypes: Coffin-Siris syndrome 8, OMIM:618362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SMAD5 Natalie Chandler reviewed gene: SMAD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40619738; Phenotypes: congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SLF2 Samantha Doyle reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 1, OMIM:620184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC9A6 Vicki Harrison reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SLC5A6 Samantha Doyle reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40272030; Phenotypes: Sodium-dependent multivitamin transporter deficiency, OMIM:618973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC13A1 Samantha Doyle reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39925707; Phenotypes: short stature, scoliosis, and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SKOR2 Anna de Burca reviewed gene: SKOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40890458; Phenotypes: Cerebellar hypoplasia, neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SIX2 Samantha Doyle reviewed gene: SIX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27383657, 32506814, 29315086, 26581443; Phenotypes: frontonasal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SIX1 Samantha Doyle reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: 37795857; Phenotypes: Branchiootic syndrome 3, OMIM:608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SHROOM4 Vicki Harrison reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 36379543, 32565546; Phenotypes: congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SGCG Vicki Harrison reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCD Vicki Harrison reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCB Vicki Harrison reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCA Vicki Harrison reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SF1 Natalie Canham reviewed gene: SF1: Rating: RED; Mode of pathogenicity: ; Publications: 40987292; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SEPHS1 Beth Young reviewed gene: SEPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38531365; Phenotypes: Ververi-Brady syndrome 2, OMIM:621325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SELENON Samantha Doyle reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 40159620, 37739444, 32864802; Phenotypes: OMIM:602771, Congenital myopathy 3 with rigid spine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SCNM1 Natalie Chandler reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: Orofaciodigital syndrome XIX, OMIM:620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SATB1 Samantha Doyle reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38790177, 33513338, 36120649; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SART3 Samantha Doyle reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: ; Publications: 37296101; Phenotypes: Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RSG1 Natalie Chandler reviewed gene: RSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40593758; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RREB1 Natalie Chandler reviewed gene: RREB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40418122; Phenotypes: Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ROBO4 Samantha Doyle reviewed gene: ROBO4: Rating: RED; Mode of pathogenicity: ; Publications: 36855159, 30455415; Phenotypes: Aortic valve disease 3, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU7-1 Esther Kinning reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39031459, 35320431, 39332260, 33230297, 39748568; Phenotypes: Aicardi-Goutieres syndrome 9 OMIM:619487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNU5A-1 Esther Kinning reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU2-2P Soo-Mi Park reviewed gene: RNU2-2P: Rating: AMBER; Mode of pathogenicity: ; Publications: 40950445, 40909831, 40442284, 40210679; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 RNPC3 Esther Kinning reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 35792517, 32462814, 34906446, 33650182; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNF13 Samantha Doyle reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 30595371, 37668308; Phenotypes: Developmental and epileptic encephalopathy 73, OMIM:618379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RHOBTB2 Soo-Mi Park reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40329844, 29768694, 39831600, 33504645, 37165955, 29276004, 37982109; Phenotypes: Developmental and epileptic encephalopathy 64, OMIM:618004; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 RBBP5 Soo-Mi Park reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 39036895; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RASA2 Esther Kinning reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25049390; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RALGAPA1 Soo-Mi Park reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447, 19733229; Phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RALA Soo-Mi Park reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39918382, 30761613, 41123801, 30500825; Phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RAD51C Natalie Chandler edited their review of gene: RAD51C: Added comment: Amber on UK fanconi panel. Green review on radial dysplasia case (from Aus). Green on all relevant Aus panels including fetal. Two cases in literature. 3rd paper refers to case in 2nd paper. Should go green on fanconi panels first.; Changed publications to: 29278735, 20400963, 37031326
Fetal anomalies v6.147 RAB35 Natalie Chandler reviewed gene: RAB35: Rating: RED; Mode of pathogenicity: ; Publications: 38432637; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PURA Esther Kinning reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787, 40603987; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PTBP1 Natalie Canham reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40965981; Phenotypes: neurodevelopmental disorder with skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRKCI Anna de Burca reviewed gene: PRKCI: Rating: GREEN; Mode of pathogenicity: ; Publications: 40902599; Phenotypes: Van der Woude syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRDM13 Arina Puzriakova reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 34730112, 35390279; Phenotypes: Pontocerebellar hypoplasia, type 17, OMIM:619909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R21 Soo-Mi Park reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 32985083, 36692708, 38356149, 30520571, 29808498; Phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R13L Tessa Homfray reviewed gene: PPP1R13L: Rating: AMBER; Mode of pathogenicity: ; Publications: 39579152, 37698259, 35924320; Phenotypes: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R12A Arina Puzriakova reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 39252126, 37272772, 39257322, 40770999; Phenotypes: Genitourinary and/or brain malformation syndrome, OMIM:618820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 POLA1 Tessa Homfray reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34119699, 31006512, 36182037; Phenotypes: Van Esch-O'Driscoll syndrome, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 PMS2 Anna de Burca reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 4, OMIM:619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNB3 Arina Puzriakova reviewed gene: PLXNB3: Rating: RED; Mode of pathogenicity: ; Publications: 36506778; Phenotypes: congenital heart disease with neurodevelopmental disabilities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PLXNB2 Vicki Harrison reviewed gene: PLXNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38458752; Phenotypes: amelogenesis imperfecta, hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNA1 Vicki Harrison reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 34054129; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 PLOD3 Esther Kinning reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40289369; Phenotypes: BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGU Tessa Homfray reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353022; Phenotypes: Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGK Tessa Homfray reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 33392778, 32220290, 38902431; Phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGB Tessa Homfray reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161862, 40230662, 31256876; Phenotypes: Developmental and epileptic encephalopathy 80, OMIM:618580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDIA6 Natalie Canham reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40974269, 33495992, 35856135; Phenotypes: Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD6IP Natalie Chandler reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: ; Publications: 32286682, 40897677; Phenotypes: Microcephaly 29, primary, autosomal recessive, OMIM:620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD2 Esther Kinning reviewed gene: PDCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PCLO Arina Puzriakova reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: ; Publications: 40661989, 25832664; Phenotypes: Pontocerebellar hypoplasia, type 3, OMIM:608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PATJ Arina Puzriakova reviewed gene: PATJ: Rating: AMBER; Mode of pathogenicity: ; Publications: 40931526; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PACSIN3 Beth Young reviewed gene: PACSIN3: Rating: RED; Mode of pathogenicity: ; Publications: 38637313; Phenotypes: Congenital myopathy 27, OMIM:621343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUP133 Natalie Canham reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 37041680, 30427554; Phenotypes: Galloway-Mowat syndrome 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUDCD2 Esther Kinning reviewed gene: NUDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37272762; Phenotypes: multiple malformation syndrome with cholestasis and renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NSD2 Arina Puzriakova reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36189577, 33276791, 30345613, 31171569, 40690504, 37351323, 38353053, 33941880; Phenotypes: Rauch-Steindl syndrome OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NR6A1 Natalie Chandler reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40610405; Phenotypes: Oculovertebral syndrome, OMIM:621277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOVA2 Esther Kinning reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607920, 32197073; Phenotypes: neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOTCH3 Esther Kinning reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40771185; Phenotypes: Lateral meningocele syndrome, OMIM:130720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MYLPF Esther Kinning reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707087; Phenotypes: Arthrogryposis, distal, type 1C, OMIM:617378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH6 Anna de Burca reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 3, OMIM:619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH2 Anna de Burca reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 2, OMIM:619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MNS1 Arina Puzriakova reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30148830, 38920647, 39233552, 31534215, 39513328; Phenotypes: Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MMP9 Natalie Chandler reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: ; Publications: 34407464, 28342220, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MLH1 Anna de Burca reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246, 39420201; Phenotypes: Mismatch repair cancer syndrome 1, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MAST1 Alice Gardham reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38284444; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MAPK8IP3 Alice Gardham reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40734308; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LSM1 Beth Young reviewed gene: LSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40204357, 36100156, 31010896; Phenotypes: FICUS syndrome, OMIM:621193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LRRC32 Alice Gardham reviewed gene: LRRC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 30976112, 40721351, 35656379; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LMOD2 Esther Kinning reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 31517052, 35082396, 37296576; Phenotypes: Cardiomyopathy, dilated, 2G, OMIM:619897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LINC01578 Natalie Chandler reviewed gene: LINC01578: Rating: AMBER; Mode of pathogenicity: ; Publications: 39442041; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LHX2 Esther Kinning reviewed gene: LHX2: Rating: RED; Mode of pathogenicity: ; Publications: 37057675; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LEF1 Beth Young reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35583550, 32022899, 39107921; Phenotypes: Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LDB3 Beth Young reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 36253531; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KIAA0556 Alice Gardham reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: ; Publications: 26714646, 36580738, 40428346, 40725402, 27245168; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KDM4B Natalie Chandler reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38270710, 33232677; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, OMIM:619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNQ5 Alice Gardham reviewed gene: KCNQ5: Rating: RED; Mode of pathogenicity: ; Publications: 40620262; Phenotypes: Intellectual developmental disorder, autosomal dominant 46, OMIM:617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.147 KCNN4 Natalie Chandler reviewed gene: KCNN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36031591; Phenotypes: Dehydrated hereditary stomatocytosis 2, OMIM:616689; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNJ8 Anna de Burca reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: ; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 INPP4A Alice Gardham reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25338135, 31978615, 21937992, 31938306, 36653678, 39315527; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IL6ST Soo-Mi Park reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: ; Publications: 40835206; Phenotypes: Stuve-Wiedemann syndrome 2, OMIM:619751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IKZF2 Beth Young reviewed gene: IKZF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37316189; Phenotypes: Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 IFT57 Alice Gardham reviewed gene: IFT57: Rating: GREEN; Mode of pathogenicity: ; Publications: 40273360, 27060890; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HNRNPR Elizabeth Scotchman reviewed gene: HNRNPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079900, 33874999; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HNRNPH1 Elizabeth Scotchman reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29938792, 33874999, 32335897; Phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HMGB1 Esther Kinning reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801, 39635340; Phenotypes: brachyphalangy, polydactyly and tibial aplasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HEY2 Alice Gardham reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40481234; Phenotypes: Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HERC2 Anna de Burca reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23243086, 38884635, 23065719, 41059448; Phenotypes: Intellectual developmental disorder, autosomal recessive 38, OMIM:615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HDAC2 Vicki Harrison reviewed gene: HDAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 30806031, 38753158; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HACD1 Anna de Burca reviewed gene: HACD1: Rating: RED; Mode of pathogenicity: ; Publications: 23933735, 15829503, 32426512, 36823680, 33354762; Phenotypes: Congenital myopathy 11, OMIM:619967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 H3F3B Anna de Burca reviewed gene: H3F3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 34876591, 33268356, 39060653; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 GTF3C3 Beth Young reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39636576, 40040844; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GPKOW Natalie Chandler reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: 28612833, 40221893; Phenotypes: Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.147 GON7 Natalie Canham reviewed gene: GON7: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669; Phenotypes: Galloway-Mowat syndrome 9, OMIM:619603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GNPNAT1 Beth Young reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Talipes equinovarus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GINS3 Natalie Chandler reviewed gene: GINS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38773883, 35603789; Phenotypes: Meier-Gorlin syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GATAD2B Sarah Graham reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976362, 31949314, 40371175; Phenotypes: GAND syndrome, OMIM:615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FOXI3 Alice Gardham reviewed gene: FOXI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36260083, 40032185, 40128339, 37041148, 40275486; Phenotypes: Craniofacial microsomia 2, OMIM:620444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FIBP Anna de Burca reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: ; Publications: 37876348, 37218527, 27183861, 40536757, 26660953, 40099975; Phenotypes: Thauvin-Robinet-Faivre syndrome, OMIM:617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FGF4 Beth Young reviewed gene: FGF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40259859; Phenotypes: Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FEM1B Beth Young reviewed gene: FEM1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38465576; Phenotypes: Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXW7 Anna de Burca reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: ; Publications: 35395208, 39364007; Phenotypes: Developmental delay, hypotonia, and impaired language, OMIM:620012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO28 Elizabeth Scotchman reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: ; Publications: 37761828, 37543484, 30160831, 33280099; Phenotypes: Developmental and epileptic encephalopathy 100, OMIM:619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO11 Arina Puzriakova reviewed gene: FBXO11: Rating: RED; Mode of pathogenicity: ; Publications: 35726512, 38268232; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 EXOSC9 Arina Puzriakova reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 33040083, 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EXOSC1 Arina Puzriakova reviewed gene: EXOSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37024942, 33463720; Phenotypes: Pontocerebellar hypoplasia, type 1F, OMIM:619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ETV2 Natalie Chandler reviewed gene: ETV2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33359164; Phenotypes: congenital heart defects, vertebral abnormalities and preaxial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ENPP5 Alice Gardham reviewed gene: ENPP5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40457511; Phenotypes: Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EMC10 Elizabeth Scotchman reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 32869858, 40150819, 35684946, 35124540, 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ELFN1 Beth Young reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 40576023, 34509675, 34452636; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EIF4A2 Elizabeth Scotchman reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36528028; Phenotypes: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDN1 Elizabeth Scotchman reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24268655, 35170830, 12244558; Phenotypes: Auriculocondylar syndrome 3, OMIM:615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDA Alice Gardham reviewed gene: EDA: Rating: RED; Mode of pathogenicity: ; Publications: 40781288; Phenotypes: Hypohidrotic ectodermal dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DPH5 Elizabeth Scotchman reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35482014, 40725455; Phenotypes: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DOT1L Beth Young reviewed gene: DOT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 37827158, 41475673; Phenotypes: Nil-Deshwar neurodevelopmental syndrome, OMIM:621265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DNAH14 Alice Gardham reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: ; Publications: 40721351, 35438214; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DLG3 Natalie Canham reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40983642; Phenotypes: Intellectual developmental disorder, X-linked 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DIP2C Elizabeth Scotchman reviewed gene: DIP2C: Rating: AMBER; Mode of pathogenicity: ; Publications: 40915331, 34617658, 38421105; Phenotypes: neurodevelopmental disorder, congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DHX37 Arina Puzriakova reviewed gene: DHX37: Rating: GREEN; Mode of pathogenicity: ; Publications: 40934457; Phenotypes: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHRS3 Natalie Chandler reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40519748; Phenotypes: coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHPS Elizabeth Scotchman reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: 30661771; Phenotypes: Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DDX23 Elizabeth Scotchman reviewed gene: DDX23: Rating: AMBER; Mode of pathogenicity: ; Publications: 34050707; Phenotypes: Syndromic neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DDR1 Alice Gardham reviewed gene: DDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39714220; Phenotypes: Chondrodysplasia with multiple dislocations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CSDE1 Natalie Chandler reviewed gene: CSDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31579823, 34519148; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CRELD1 Natalie Canham reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40870020, 37947183, 40980404; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CPOX Alice Gardham reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: 40769776; Phenotypes: Harderoporphyria, OMIM:618892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKB Tessa Homfray reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter syndrome, type 3, OMIM:607364; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKA Tessa Homfray reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCN3 Elizabeth Scotchman reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36536096, 34186028; Phenotypes: Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 CHD8 Vicki Harrison reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 40848233; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, OMIM:615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CEP76 Natalie Chandler reviewed gene: CEP76: Rating: GREEN; Mode of pathogenicity: ; Publications: 41105778; Phenotypes: retinitis pigmentosa, Joubert syndrome, complex neurodevelopmental disorder MONDO:0100038, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CEP162 Natalie Chandler reviewed gene: CEP162: Rating: RED; Mode of pathogenicity: ; Publications: 36862503; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CDX1 Beth Young reviewed gene: CDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23329892; Phenotypes: Anorectal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDH11 Beth Young reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811546, 29271567; Phenotypes: Teebi hypertelorism syndrome 2, OMIM:619736; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 CDC42BPB Elizabeth Scotchman reviewed gene: CDC42BPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC42 Elizabeth Scotchman reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: 40371891, 33936654, 34624555, 29335451, 29394990, 26708094, 33672558, 26386261; Phenotypes: Takenouchi-Kosaki syndrome, OMIM:616737; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC40 Arina Puzriakova reviewed gene: CDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 15, OMIM:619302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCT8 Stephanie Allen reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Brain malformations, intellectual disability, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CCP110 Arina Puzriakova reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 38857829; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCM2L Stephanie Allen reviewed gene: CCM2L: Rating: RED; Mode of pathogenicity: ; Publications: 40521769; Phenotypes: Tetralogy of Fallot; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC88A Stephanie Allen reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37798908, 39334473, 26917597, 39675783, 40401444, 30392057; Phenotypes: PEHO syndrome-like, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC32 Natalie Chandler reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 32307552; Phenotypes: Cardiofacioneurodevelopmental syndrome, OMIM:619123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CBFB Stephanie Allen reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 36241386, 39894570; Phenotypes: Cleidocranial dysplasia-2, OMIM:620099; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CAMSAP1 Natalie Chandler reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39724270, 36283405; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CACHD1 Sarah Graham reviewed gene: CACHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38158856; Phenotypes: Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BUB1 Natalie Chandler reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: Microcephaly 30, primary, autosomal recessive, OMIM:620183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRWD3 Vicki Harrison reviewed gene: BRWD3: Rating: RED; Mode of pathogenicity: ; Publications: 40905141, 36414205; Phenotypes: Intellectual developmental disorder, X-linked 93, OMIM:300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 BRF2 Stephanie Allen reviewed gene: BRF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40781771, 40229899; Phenotypes: Syndromic immunodeficiency and developmental disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRF1 Stephanie Allen reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40657982; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BNIP1 Beth Young reviewed gene: BNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 3,526,622,739,706,860; Phenotypes: Spondyloepiphyseal dysplasia, Holling type, OMIM:621345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BBIP1 Natalie Chandler reviewed gene: BBIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37239474, 24026985, 32055034; Phenotypes: Bardet-Biedl syndrome 18, MIM #615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BAZ2B Sarah Graham reviewed gene: BAZ2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31999386, 37872713; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 B9D1 Stephanie Allen reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40933483, 40565534; Phenotypes: Joubert syndrome 27, OMIM:617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ATP6V0A1 Anna de Burca reviewed gene: ATP6V0A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 34909687, 33833240; Phenotypes: Developmental and epileptic encephalopathy 104, OMIM:619970, Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 ASXL2 Soo-Mi Park reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33751773, 27693232, 35182806; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF40 Sarah Graham reviewed gene: ARHGEF40: Rating: AMBER; Mode of pathogenicity: ; Publications: 39838643; Phenotypes: Congenital anomalies and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF17 Arina Puzriakova reviewed gene: ARHGEF17: Rating: RED; Mode of pathogenicity: ; Publications: 36341116, 40721351; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ARF3 Natalie Chandler reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38712921, 36369169, 34346499; Phenotypes: Neurodevelopmental disorder, brain abnormality; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARAF Stephanie Allen reviewed gene: ARAF: Rating: RED; Mode of pathogenicity: ; Publications: 31263281; Phenotypes: Lymphatic anomaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKRD17 Stephanie Allen reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 40604385; Phenotypes: Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKLE2 Natalie Chandler reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35871307, 31735666, 30214071, 40940024, 25259927; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AMOT Anna de Burca reviewed gene: AMOT: Rating: AMBER; Mode of pathogenicity: ; Publications: 40892511; Phenotypes: Congenital hydrocephalus; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ALKBH8 Stephanie Allen reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Intellectual developmental disorder, autosomal recessive 71, OMIM:618504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP2 Stephanie Allen reviewed gene: AIMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Leukodystrophy, hypomyelinating, 17, OMIM:618006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP1 Stephanie Allen reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40603987; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAT3 Stephanie Allen reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40579404; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS9 Elizabeth Scotchman reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30609407, 34750010; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS13 Stephanie Allen reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: ; Publications: 40760196; Phenotypes: Hereditary thrombotic thrombocytopenic purpura, OMIM:274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ACVR2B Natalie Chandler reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: ; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ACVR1 Soo-Mi Park reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40911705, 40874919, 26097044, 25346098; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ABI2 Stephanie Allen reviewed gene: ABI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40475134; Phenotypes: Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus v5.12 FAAP100 Ida Ertmanska Classified gene: FAAP100 as Amber List (moderate evidence)
Hydrocephalus v5.12 FAAP100 Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals reported in literature with hydrocephalus and/or ventriculomegaly, harbouring biallelic FAAP100 variants. Based on available evidence, FAAP100 should be promoted to Green at the next update.
Hydrocephalus v5.12 FAAP100 Ida Ertmanska Gene: faap100 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v5.11 FAAP100 Ida Ertmanska gene: FAAP100 was added
gene: FAAP100 was added to Hydrocephalus. Sources: Literature
Q1_26_promote_green tags were added to gene: FAAP100.
Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP100 were set to 40232843; 40244696
Phenotypes for gene: FAAP100 were set to Fanconi anemia, complementation group X, OMIM:621258
Review for gene: FAAP100 was set to GREEN
Added comment: PMID: 40232843 Kuehl et al., 2025
Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum.
Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models.

PMID: 40244696 Harrison et al., 2025
Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy.
Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia.
Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het.

Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child (individual C) that died at 14 months due to respiratory failure. Individual C presented with presented with congenital anomalies including bilateral microtia, reduced radius size in both forearms, absence of both thumbs, and a right radial club hand. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het.

FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026).
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v3.13 NEXN Ida Ertmanska commented on gene: NEXN: Comment on mode of inheritance: There are now more than 3 cases reported for both mono- and bi- allelic NEXN-related dilated cardiomyopathy cases. Hence, the MOI should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Dilated and arrhythmogenic cardiomyopathy v3.13 NEXN Ida Ertmanska Publications for gene: NEXN were set to 19881492; 27532257
Dilated and arrhythmogenic cardiomyopathy v3.12 NEXN Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes updated 10th Mar 2026. Both dominant and recessive forms of NEXN-related dilated cardiomyopathy are now included in OMIM.
Dilated and arrhythmogenic cardiomyopathy v3.12 NEXN Ida Ertmanska Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC, OMIM:613122 to Cardiomyopathy, dilated, 1CC, OMIM:613122; Cardiomyopathy, dilated, 2M, autosomal recessive, OMIM:621261
Dilated and arrhythmogenic cardiomyopathy v3.11 NEXN Ida Ertmanska Tag Q1_26_MOI tag was added to gene: NEXN.
Dilated and arrhythmogenic cardiomyopathy v3.11 NEXN Ida Ertmanska changed review comment from: Literature review by Achchuthan Shanmugasundram (Genomics England Curator) copied from Paediatric or syndromic cardiomyopathy:

PMID:32058062 - One male foetus was reported with compound heterozygous NEXN variants (c.1756A > T & c.1909_1912del) and dilated cardiomyopathy.

PMID:33027564 - One case was identified with dilated and hypertrophic cardiomyopathy and with compound heterozygous NEXN variants (p.Arg216Ter & p.Lys536fs). However, it was not possible to determine the phase (whether cis or trans) on the basis of exome sequencing.

PMID:33949776 - One patient presented with fetal hydrops at 33  weeks gestation requiring emergency caesarian delivery. Postnatally she required ventilation and continuous inotropic support for left ventricle systolic dysfunction. She died after 2 weeks when therapy was withdrawn. Homozygous c.1174C > T (p.Arg392Ter) variant in the NEXN gene was identified in this patient.

PMID:35166435 - A female from a four-generation Swedish family comprising 42 individuals had three three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Homozygous NEXN variant (c.1302del/ p.Ile435Serfs*3) was identified in these foetuses.

In addition to these peer reviewed cases, additional biallelic cases were reported in the following reports: 10.1016/j.jsha.2013.03.180 & 10.1016/j.gimo.2023.100620.

The phenotypes associated with monoallelic variants are already reported in OMIM. However, phenotypes associated with biallelic variants are not yet reported either in OMIM or in Gene2Phenotype.; to: Literature review by Achchuthan Shanmugasundram (Genomics England Curator) copied from Paediatric or syndromic cardiomyopathy:

PMID:32058062 - One male foetus was reported with compound heterozygous NEXN variants (c.1756A > T & c.1909_1912del) and dilated cardiomyopathy.

PMID:33027564 - One case was identified with dilated and hypertrophic cardiomyopathy and with compound heterozygous NEXN variants (p.Arg216Ter & p.Lys536fs). However, it was not possible to determine the phase (whether cis or trans) on the basis of exome sequencing.

PMID:33949776 - One patient presented with fetal hydrops at 33  weeks gestation requiring emergency caesarian delivery. Postnatally she required ventilation and continuous inotropic support for left ventricle systolic dysfunction. She died after 2 weeks when therapy was withdrawn. Homozygous c.1174C > T (p.Arg392Ter) variant in the NEXN gene was identified in this patient.

PMID:35166435 - A female from a four-generation Swedish family comprising 42 individuals had three three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Homozygous NEXN variant (c.1302del/ p.Ile435Serfs*3) was identified in these foetuses.

In addition to these peer reviewed cases, additional biallelic cases were reported in the following reports: 10.1016/j.jsha.2013.03.180 & 10.1016/j.gimo.2023.100620.
Dilated and arrhythmogenic cardiomyopathy v3.11 NEXN Ida Ertmanska reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32058062, 33027564, 33949776, 35166435; Phenotypes: Cardiomyopathy, dilated, 1CC, OMIM:613122, Cardiomyopathy, dilated, 2M, autosomal recessive, OMIM:621261; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v4.9 MPDU1 Veronica Kinsler gene: MPDU1 was added
gene: MPDU1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733556
Phenotypes for gene: MPDU1 were set to Ichthyosis
Penetrance for gene: MPDU1 were set to unknown
Review for gene: MPDU1 was set to GREEN
Added comment: Sources: Literature
Inherited predisposition to acute myeloid leukaemia (AML) v3.5 CHEK2 Sahana Chatakondu changed review comment from: Germline CHEK2 loss-of-function variants were identified in individuals with hematologic malignancies including AML and MDS. CHEK2 encodes a DNA damage checkpoint kinase and functions as a tumour suppressor,pathogenic variants impair DNA repair pathways, predisposing to malignancy.; to: Germline CHEK2 loss-of-function variants were identified in individuals with hematologic malignancies including AML and MDS. CHEK2 encodes a DNA damage checkpoint kinase and functions as a tumour suppressor,pathogenic variants impair DNA repair pathways, predisposing to malignancy.

PMID: 40335619
Inherited predisposition to acute myeloid leukaemia (AML) v3.5 CHEK2 Sahana Chatakondu reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Hematologic malignancy predisposition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 LINC01578 Arina Puzriakova commented on gene: LINC01578
Fetal anomalies v6.146 LINC01578 Arina Puzriakova Tag new-gene-name tag was added to gene: LINC01578.
Fetal anomalies v6.146 YWHAE Arina Puzriakova gene: YWHAE was added
gene: YWHAE was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 TRPM4 Arina Puzriakova gene: TRPM4 was added
gene: TRPM4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SPTBN1 Arina Puzriakova gene: SPTBN1 was added
gene: SPTBN1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SPOP Arina Puzriakova gene: SPOP was added
gene: SPOP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SLC13A1 Arina Puzriakova gene: SLC13A1 was added
gene: SLC13A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SGCD Arina Puzriakova gene: SGCD was added
gene: SGCD was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SGCB Arina Puzriakova gene: SGCB was added
gene: SGCB was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SF1 Arina Puzriakova gene: SF1 was added
gene: SF1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SEPHS1 Arina Puzriakova gene: SEPHS1 was added
gene: SEPHS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RREB1 Arina Puzriakova gene: RREB1 was added
gene: RREB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ROBO4 Arina Puzriakova gene: ROBO4 was added
gene: ROBO4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RNU2-2P Arina Puzriakova gene: RNU2-2P was added
gene: RNU2-2P was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU2-2P was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.146 RNPC3 Arina Puzriakova gene: RNPC3 was added
gene: RNPC3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 RNF13 Arina Puzriakova gene: RNF13 was added
gene: RNF13 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RASA2 Arina Puzriakova gene: RASA2 was added
gene: RASA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 POLA1 Arina Puzriakova gene: POLA1 was added
gene: POLA1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.146 PLXNB3 Arina Puzriakova gene: PLXNB3 was added
gene: PLXNB3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: PLXNB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 PLXNB2 Arina Puzriakova gene: PLXNB2 was added
gene: PLXNB2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 PDCD6IP Arina Puzriakova gene: PDCD6IP was added
gene: PDCD6IP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 PCLO Arina Puzriakova gene: PCLO was added
gene: PCLO was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 NOTCH3 Arina Puzriakova gene: NOTCH3 was added
gene: NOTCH3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 MMP9 Arina Puzriakova gene: MMP9 was added
gene: MMP9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 LINC01578 Arina Puzriakova gene: LINC01578 was added
gene: LINC01578 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 LHX2 Arina Puzriakova gene: LHX2 was added
gene: LHX2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 KCNN4 Arina Puzriakova gene: KCNN4 was added
gene: KCNN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 IKZF2 Arina Puzriakova gene: IKZF2 was added
gene: IKZF2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 HEY2 Arina Puzriakova gene: HEY2 was added
gene: HEY2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HEY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 HACD1 Arina Puzriakova gene: HACD1 was added
gene: HACD1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 FIBP Arina Puzriakova gene: FIBP was added
gene: FIBP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 EXOSC1 Arina Puzriakova gene: EXOSC1 was added
gene: EXOSC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ELFN1 Arina Puzriakova gene: ELFN1 was added
gene: ELFN1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DNAH14 Arina Puzriakova gene: DNAH14 was added
gene: DNAH14 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DIP2C Arina Puzriakova gene: DIP2C was added
gene: DIP2C was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 DHRS3 Arina Puzriakova gene: DHRS3 was added
gene: DHRS3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DHPS Arina Puzriakova gene: DHPS was added
gene: DHPS was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DDX23 Arina Puzriakova gene: DDX23 was added
gene: DDX23 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 DDR1 Arina Puzriakova gene: DDR1 was added
gene: DDR1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 CPOX Arina Puzriakova gene: CPOX was added
gene: CPOX was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CPOX was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 CDX1 Arina Puzriakova gene: CDX1 was added
gene: CDX1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 CDC40 Arina Puzriakova gene: CDC40 was added
gene: CDC40 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 BUB1 Arina Puzriakova gene: BUB1 was added
gene: BUB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 BAZ2B Arina Puzriakova gene: BAZ2B was added
gene: BAZ2B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ATP6V0A1 Arina Puzriakova gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.146 ARHGEF40 Arina Puzriakova gene: ARHGEF40 was added
gene: ARHGEF40 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ARAF Arina Puzriakova gene: ARAF was added
gene: ARAF was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ALKBH8 Arina Puzriakova gene: ALKBH8 was added
gene: ALKBH8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 AIMP2 Arina Puzriakova gene: AIMP2 was added
gene: AIMP2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ADAMTS9 Arina Puzriakova gene: ADAMTS9 was added
gene: ADAMTS9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ADAMTS13 Arina Puzriakova gene: ADAMTS13 was added
gene: ADAMTS13 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.92 IDH3A Achchuthan Shanmugasundram edited their review of gene: IDH3A: Changed rating: GREEN
Likely inborn error of metabolism v8.92 HPDL Achchuthan Shanmugasundram edited their review of gene: HPDL: Changed rating: GREEN
Early onset or syndromic epilepsy v8.131 NRDC Ida Ertmanska changed review comment from: PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature; to: PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants (some reported previously). Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature
Arthrogryposis v9.27 NRDC Ida Ertmanska Phenotypes for gene: NRDC were changed from to neurodevelopmental disorder, MONDO:0700092
Arthrogryposis v9.26 NRDC Ida Ertmanska Classified gene: NRDC as Amber List (moderate evidence)
Arthrogryposis v9.26 NRDC Ida Ertmanska Added comment: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and joint contractures. Hence, this gene should be promoted to Green at the next update.
Arthrogryposis v9.26 NRDC Ida Ertmanska Gene: nrdc has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.131 NRDC Ida Ertmanska changed review comment from: Comment on list classification: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic epilepsy. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic epilepsy. Hence, this gene should be promoted to Green at the next update.
Intellectual disability v9.293 NRDC Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and intellectual disability. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic intellectual disability. Hence, this gene should be promoted to Green at the next update.
Fetal anomalies v6.145 WASHC3 Arina Puzriakova gene: WASHC3 was added
gene: WASHC3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.145 TMPRSS7 Arina Puzriakova gene: TMPRSS7 was added
gene: TMPRSS7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 TMEM263 Arina Puzriakova gene: TMEM263 was added
gene: TMEM263 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM263 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 SMAD5 Arina Puzriakova gene: SMAD5 was added
gene: SMAD5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SMAD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 RAB35 Arina Puzriakova gene: RAB35 was added
gene: RAB35 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: RAB35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 PATJ Arina Puzriakova gene: PATJ was added
gene: PATJ was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 PACSIN3 Arina Puzriakova gene: PACSIN3 was added
gene: PACSIN3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 NUDCD2 Arina Puzriakova gene: NUDCD2 was added
gene: NUDCD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 HDAC2 Arina Puzriakova gene: HDAC2 was added
gene: HDAC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 ETV2 Arina Puzriakova gene: ETV2 was added
gene: ETV2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 ENPP5 Arina Puzriakova gene: ENPP5 was added
gene: ENPP5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ENPP5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CEP162 Arina Puzriakova gene: CEP162 was added
gene: CEP162 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CEP162 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CCP110 Arina Puzriakova gene: CCP110 was added
gene: CCP110 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCP110 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CCM2L Arina Puzriakova gene: CCM2L was added
gene: CCM2L was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CCM2L was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 BNIP1 Arina Puzriakova gene: BNIP1 was added
gene: BNIP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 ARHGEF17 Arina Puzriakova gene: ARHGEF17 was added
gene: ARHGEF17 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARHGEF17 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 AMOT Arina Puzriakova gene: AMOT was added
gene: AMOT was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.144 ZDHHC9 Arina Puzriakova Source Expert Review Amber was added to ZDHHC9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 WDR11 Arina Puzriakova Source Expert Review Amber was added to WDR11.
Mode of inheritance for gene WDR11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 TEK Arina Puzriakova Source Expert Review Amber was added to TEK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PURA Arina Puzriakova Source Expert Review Amber was added to PURA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PPP1R13L Arina Puzriakova Source Expert Review Amber was added to PPP1R13L.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PMS2 Arina Puzriakova Source Expert Review Amber was added to PMS2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MSH6 Arina Puzriakova Source Expert Review Amber was added to MSH6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MSH2 Arina Puzriakova Source Expert Review Amber was added to MSH2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MLH1 Arina Puzriakova Source Expert Review Amber was added to MLH1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 LDB3 Arina Puzriakova Source Expert Review Amber was added to LDB3.
Mode of inheritance for gene LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 KCNQ5 Arina Puzriakova Source Expert Review Red was added to KCNQ5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v6.144 EDN1 Arina Puzriakova Mode of inheritance for gene EDN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.144 DLG3 Arina Puzriakova Source Expert Review Amber was added to DLG3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 AIMP1 Arina Puzriakova Source Expert Review Amber was added to AIMP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.131 NRDC Ida Ertmanska Classified gene: NRDC as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.131 NRDC Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic epilepsy. Hence, this gene should be promoted to Green at the next update.
Early onset or syndromic epilepsy v8.131 NRDC Ida Ertmanska Gene: nrdc has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.130 NRDC Ida Ertmanska Phenotypes for gene: NRDC were changed from to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v9.293 NRDC Ida Ertmanska Phenotypes for gene: NRDC were changed from to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v9.292 NRDC Ida Ertmanska Classified gene: NRDC as Amber List (moderate evidence)
Intellectual disability v9.292 NRDC Ida Ertmanska Added comment: Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and intellectual disability. Hence, this gene should be promoted to Green at the next update.
Intellectual disability v9.292 NRDC Ida Ertmanska Gene: nrdc has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.291 NRDC Ida Ertmanska changed review comment from: PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature; to: PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants (some reported previously). Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature
Early onset or syndromic epilepsy v8.129 NRDC Ida Ertmanska gene: NRDC was added
gene: NRDC was added to Early onset or syndromic epilepsy. Sources: Literature
Q1_26_promote_green tags were added to gene: NRDC.
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41734767
Review for gene: NRDC was set to GREEN
Added comment: PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature
Arthrogryposis v9.25 NRDC Ida Ertmanska gene: NRDC was added
gene: NRDC was added to Arthrogryposis. Sources: Literature
Q1_26_promote_green tags were added to gene: NRDC.
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41734767
Review for gene: NRDC was set to GREEN
Added comment: PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature
Intellectual disability v9.291 NRDC Ida Ertmanska gene: NRDC was added
gene: NRDC was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: NRDC.
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41734767
Review for gene: NRDC was set to GREEN
Added comment: PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature
Fetal anomalies v6.143 SGCG Arina Puzriakova Source Expert Review Red was added to SGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.143 ACVR2B Arina Puzriakova Source Expert Review Red was added to ACVR2B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.143 ZPR1 Arina Puzriakova gene: ZPR1 was added
gene: ZPR1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ZNF668 Arina Puzriakova gene: ZNF668 was added
gene: ZNF668 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ZBTB7A Arina Puzriakova gene: ZBTB7A was added
gene: ZBTB7A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 YY1AP1 Arina Puzriakova gene: YY1AP1 was added
gene: YY1AP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 YRDC Arina Puzriakova Source Expert Review Green was added to YRDC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 WSB2 Arina Puzriakova Source Expert Review Green was added to WSB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 WNK3 Arina Puzriakova gene: WNK3 was added
gene: WNK3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.143 WDR91 Arina Puzriakova Source Expert Review Green was added to WDR91.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 VPS51 Arina Puzriakova gene: VPS51 was added
gene: VPS51 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 VPS50 Arina Puzriakova gene: VPS50 was added
gene: VPS50 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 VPS33A Arina Puzriakova gene: VPS33A was added
gene: VPS33A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 UGGT1 Arina Puzriakova gene: UGGT1 was added
gene: UGGT1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TUBGCP2 Arina Puzriakova Source Expert Review Green was added to TUBGCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 TTC26 Arina Puzriakova gene: TTC26 was added
gene: TTC26 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TRIO Arina Puzriakova Source Expert Review Green was added to TRIO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 TPRKB Arina Puzriakova gene: TPRKB was added
gene: TPRKB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TP53RK Arina Puzriakova gene: TP53RK was added
gene: TP53RK was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM251 Arina Puzriakova gene: TMEM251 was added
gene: TMEM251 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM17 Arina Puzriakova gene: TMEM17 was added
gene: TMEM17 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM167A Arina Puzriakova gene: TMEM167A was added
gene: TMEM167A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 THUMPD1 Arina Puzriakova gene: THUMPD1 was added
gene: THUMPD1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TASP1 Arina Puzriakova gene: TASP1 was added
gene: TASP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SOX4 Arina Puzriakova gene: SOX4 was added
gene: SOX4 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SNAPIN Arina Puzriakova Source Expert Review Green was added to SNAPIN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 SMG8 Arina Puzriakova gene: SMG8 was added
gene: SMG8 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SMC5 Arina Puzriakova gene: SMC5 was added
gene: SMC5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SMARCC2 Arina Puzriakova gene: SMARCC2 was added
gene: SMARCC2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SLF2 Arina Puzriakova gene: SLF2 was added
gene: SLF2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SLC5A6 Arina Puzriakova gene: SLC5A6 was added
gene: SLC5A6 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SKOR2 Arina Puzriakova gene: SKOR2 was added
gene: SKOR2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SIX2 Arina Puzriakova gene: SIX2 was added
gene: SIX2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SHROOM4 Arina Puzriakova Source Expert Review Green was added to SHROOM4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 SELENON Arina Puzriakova Source Expert Review Green was added to SELENON.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 SCNM1 Arina Puzriakova gene: SCNM1 was added
gene: SCNM1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SATB1 Arina Puzriakova gene: SATB1 was added
gene: SATB1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SART3 Arina Puzriakova gene: SART3 was added
gene: SART3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RSG1 Arina Puzriakova gene: RSG1 was added
gene: RSG1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RNU7-1 Arina Puzriakova gene: RNU7-1 was added
gene: RNU7-1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RHOBTB2 Arina Puzriakova gene: RHOBTB2 was added
gene: RHOBTB2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RHOBTB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 RBBP5 Arina Puzriakova gene: RBBP5 was added
gene: RBBP5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 RALGAPA1 Arina Puzriakova gene: RALGAPA1 was added
gene: RALGAPA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RALA Arina Puzriakova gene: RALA was added
gene: RALA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 PTBP1 Arina Puzriakova Source Expert Review Green was added to PTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 PRKCI Arina Puzriakova gene: PRKCI was added
gene: PRKCI was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PRKCI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 PRDM13 Arina Puzriakova gene: PRDM13 was added
gene: PRDM13 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PPP1R21 Arina Puzriakova gene: PPP1R21 was added
gene: PPP1R21 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PPP1R12A Arina Puzriakova Source Expert Review Green was added to PPP1R12A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 PLXNA1 Arina Puzriakova gene: PLXNA1 was added
gene: PLXNA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGU Arina Puzriakova gene: PIGU was added
gene: PIGU was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGK Arina Puzriakova gene: PIGK was added
gene: PIGK was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGB Arina Puzriakova gene: PIGB was added
gene: PIGB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PDIA6 Arina Puzriakova gene: PDIA6 was added
gene: PDIA6 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PDCD2 Arina Puzriakova Source Expert Review Green was added to PDCD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 NUP133 Arina Puzriakova gene: NUP133 was added
gene: NUP133 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 NSD2 Arina Puzriakova Source Expert Review Green was added to NSD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 NR6A1 Arina Puzriakova gene: NR6A1 was added
gene: NR6A1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 NOVA2 Arina Puzriakova Source Expert Review Green was added to NOVA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MYLPF Arina Puzriakova gene: MYLPF was added
gene: MYLPF was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 MNS1 Arina Puzriakova Source Expert Review Green was added to MNS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MAST1 Arina Puzriakova Source Expert Review Green was added to MAST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MAPK8IP3 Arina Puzriakova Source Expert Review Green was added to MAPK8IP3.
Mode of inheritance for gene MAPK8IP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 LSM1 Arina Puzriakova gene: LSM1 was added
gene: LSM1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LRRC32 Arina Puzriakova gene: LRRC32 was added
gene: LRRC32 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LMOD2 Arina Puzriakova gene: LMOD2 was added
gene: LMOD2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LEF1 Arina Puzriakova gene: LEF1 was added
gene: LEF1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 KIAA0556 Arina Puzriakova Source Expert Review Green was added to KIAA0556.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 KDM4B Arina Puzriakova gene: KDM4B was added
gene: KDM4B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 KCNJ8 Arina Puzriakova Source Expert Review Green was added to KCNJ8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 INPP4A Arina Puzriakova gene: INPP4A was added
gene: INPP4A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 IL6ST Arina Puzriakova gene: IL6ST was added
gene: IL6ST was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 IFT57 Arina Puzriakova gene: IFT57 was added
gene: IFT57 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 HNRNPR Arina Puzriakova gene: HNRNPR was added
gene: HNRNPR was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 HNRNPH1 Arina Puzriakova gene: HNRNPH1 was added
gene: HNRNPH1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 HMGB1 Arina Puzriakova Source Expert Review Green was added to HMGB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 HERC2 Arina Puzriakova gene: HERC2 was added
gene: HERC2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 H3F3B Arina Puzriakova gene: H3F3B was added
gene: H3F3B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 GTF3C3 Arina Puzriakova gene: GTF3C3 was added
gene: GTF3C3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GPKOW Arina Puzriakova Source Expert Review Green was added to GPKOW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 GON7 Arina Puzriakova gene: GON7 was added
gene: GON7 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GINS3 Arina Puzriakova gene: GINS3 was added
gene: GINS3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GATAD2B Arina Puzriakova Source Expert Review Green was added to GATAD2B.
Mode of inheritance for gene GATAD2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 FOXI3 Arina Puzriakova Source Expert Review Green was added to FOXI3.
Mode of inheritance for gene FOXI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 FGF4 Arina Puzriakova gene: FGF4 was added
gene: FGF4 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 FEM1B Arina Puzriakova gene: FEM1B was added
gene: FEM1B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 FBXW7 Arina Puzriakova gene: FBXW7 was added
gene: FBXW7 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 FBXO28 Arina Puzriakova gene: FBXO28 was added
gene: FBXO28 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 EXOSC9 Arina Puzriakova Source Expert Review Green was added to EXOSC9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 EMC10 Arina Puzriakova gene: EMC10 was added
gene: EMC10 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 EIF4A2 Arina Puzriakova gene: EIF4A2 was added
gene: EIF4A2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 DPH5 Arina Puzriakova gene: DPH5 was added
gene: DPH5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 DOT1L Arina Puzriakova gene: DOT1L was added
gene: DOT1L was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 DHX37 Arina Puzriakova gene: DHX37 was added
gene: DHX37 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DHX37 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CSDE1 Arina Puzriakova gene: CSDE1 was added
gene: CSDE1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CLCNKB Arina Puzriakova Source Expert Review Green was added to CLCNKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 CLCNKA Arina Puzriakova gene: CLCNKA was added
gene: CLCNKA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CLCN3 Arina Puzriakova gene: CLCN3 was added
gene: CLCN3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 CEP76 Arina Puzriakova gene: CEP76 was added
gene: CEP76 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CDC42BPB Arina Puzriakova gene: CDC42BPB was added
gene: CDC42BPB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CDC42 Arina Puzriakova gene: CDC42 was added
gene: CDC42 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CCDC88A Arina Puzriakova gene: CCDC88A was added
gene: CCDC88A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CCDC32 Arina Puzriakova gene: CCDC32 was added
gene: CCDC32 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CBFB Arina Puzriakova gene: CBFB was added
gene: CBFB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CAMSAP1 Arina Puzriakova gene: CAMSAP1 was added
gene: CAMSAP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CACHD1 Arina Puzriakova Source Expert Review Green was added to CACHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 BRF2 Arina Puzriakova gene: BRF2 was added
gene: BRF2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 BRF1 Arina Puzriakova Source Expert Review Green was added to BRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 BBIP1 Arina Puzriakova gene: BBIP1 was added
gene: BBIP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 B9D1 Arina Puzriakova Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ASXL2 Arina Puzriakova Source Expert Review Green was added to ASXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ARF3 Arina Puzriakova gene: ARF3 was added
gene: ARF3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 ANKLE2 Arina Puzriakova Source Expert Review Green was added to ANKLE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ADAT3 Arina Puzriakova gene: ADAT3 was added
gene: ADAT3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ACVR1 Arina Puzriakova Source Expert Review Green was added to ACVR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ABI2 Arina Puzriakova gene: ABI2 was added
gene: ABI2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal ciliopathies v4.9 TMEM72 Ida Ertmanska changed review comment from: Comment on list classification: There are 6 families reported in literature with biallelic TMEM72 variants and a nephronophthisis phenotype. Kidney failure occurred at 21-41 years in 5 families; 1 case had prenatal-onset kidney failure. In addition, functional evidence shows that TMEM72 localises to the cilium and has a role in ciliary cholesterol transport. Based on available evidence, this gene should be promoted to Green for Renal ciliopathies.; to: Comment on list classification: There are 6 families reported in literature with biallelic TMEM72 variants and a nephronophthisis phenotype. Kidney failure occurred at 21-41 years in 5 families; 1 case had prenatal-onset kidney failure. In addition, functional evidence shows that TMEM72 localises to the cilium and has a role in ciliary cholesterol transport. Based on available evidence, this gene should be promoted to Green for Renal ciliopathies. Addition to this panel also ensures inclusion on the 'Unexplained young onset end-stage renal disease' superpanel.
Renal ciliopathies v4.9 TMEM72 Ida Ertmanska Classified gene: TMEM72 as Amber List (moderate evidence)
Renal ciliopathies v4.9 TMEM72 Ida Ertmanska Added comment: Comment on list classification: There are 6 families reported in literature with biallelic TMEM72 variants and a nephronophthisis phenotype. Kidney failure occurred at 21-41 years in 5 families; 1 case had prenatal-onset kidney failure. In addition, functional evidence shows that TMEM72 localises to the cilium and has a role in ciliary cholesterol transport. Based on available evidence, this gene should be promoted to Green for Renal ciliopathies.
Renal ciliopathies v4.9 TMEM72 Ida Ertmanska Gene: tmem72 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v4.8 TMEM72 Ida Ertmanska gene: TMEM72 was added
gene: TMEM72 was added to Renal ciliopathies. Sources: Literature
Q1_26_promote_green tags were added to gene: TMEM72.
Mode of inheritance for gene: TMEM72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM72 were set to 41308066
Phenotypes for gene: TMEM72 were set to nephronophthisis, MONDO:0019005
Review for gene: TMEM72 was set to GREEN
Added comment: PMID: 41308066 Claus et al., 2025
Study identified biallelic TMEM72 variants in 9 patients from six families with a phenotype suggestive of nephronophthisis. Five families presented with kidney failure at 21-41years. Kidney ultrasound showed small-to-normal-sized kidneys, increased echogenicity and loss of corticomedullary differentiation. One patient (Family F) had a different phenotype with prenatal onset of kidney failure, as well as epilepsy and intra-uterine oligohydramnios; she died at age 2 years.
Patients in families A-E were homozygous for frameshift/truncating TMEM72 variants, while proband in family F was homozygous for a missense variant c.370G>A p.(Gly124Ser).
Functional evidence: in human-derived tubuloids, authors showed that TMEM72 localizes to the cilium; affinity proteomics approach showed an association of TMEM72 ciliary function in selective ciliary cholesterol transport.

TMEM72 has not yet been associated with disease in OMIM or Gene2Phenotype (accessed 9th March 2026).
Sources: Literature
Intellectual disability v9.290 FSD1L Ida Ertmanska Classified gene: FSD1L as Amber List (moderate evidence)
Intellectual disability v9.290 FSD1L Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: There are more than 3 families reported in literature with affected individuals presenting with a severe neurodevelopmental disorder, including severe intellectual disability. There is enough evidence to promote FSD1L to Green at the next update.
Intellectual disability v9.290 FSD1L Ida Ertmanska Gene: fsd1l has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.128 FSD1L Ida Ertmanska Classified gene: FSD1L as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.128 FSD1L Ida Ertmanska Added comment: Comment on list classification: There are more than 3 families reported in literature with affected individuals presenting with a severe neurodevelopmental disorder, including epilepsy. There is enough evidence to promote FSD1L to Green at the next update.
Early onset or syndromic epilepsy v8.128 FSD1L Ida Ertmanska Gene: fsd1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.142 FSD1L Ida Ertmanska Tag Q1_26_promote_green was removed from gene: FSD1L.
Malformations of cortical development v7.32 FSD1L Ida Ertmanska Classified gene: FSD1L as Amber List (moderate evidence)
Malformations of cortical development v7.32 FSD1L Ida Ertmanska Added comment: Comment on list classification: There are 5 families reported in literature with biallelic FSD1L variants and a severe neurodevelopmental phenotype, including consistent corpus callosum hypoplasia/agenesis, as well as variable presentation of cerebellar, brainstem & optic nerve hypoplasia. Based on available evidence, this gene should be promoted to Green for Malformations of cortical development at the next update.
Malformations of cortical development v7.32 FSD1L Ida Ertmanska Gene: fsd1l has been classified as Amber List (Moderate Evidence).
Hydrocephalus v5.10 FSD1L Ida Ertmanska Classified gene: FSD1L as Amber List (moderate evidence)
Hydrocephalus v5.10 FSD1L Ida Ertmanska Added comment: Comment on list classification: There are at least three families reported in literature where severe hydrocephalus was reported in individuals habrouring biallelic FSD1L variants. Based on available evidence, FSD1L should be promoted to Green at the next update.
Hydrocephalus v5.10 FSD1L Ida Ertmanska Gene: fsd1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.142 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Fetal anomalies. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
Report of 6 affected individuals from 4 families with retinitis pigmentosa. One individual underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement.
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Malformations of cortical development v7.31 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Malformations of cortical development. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
Report of 6 affected individuals from 4 families with retinitis pigmentosa. One individual underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement.
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Early onset or syndromic epilepsy v8.127 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Early onset or syndromic epilepsy. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
Report of 6 affected individuals from 4 families with retinitis pigmentosa. One individual underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement.
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Intellectual disability v9.289 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
Report of 6 affected individuals from 4 families with retinitis pigmentosa. One individual underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement.
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Hydrocephalus v5.9 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Hydrocephalus. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
Report of 6 affected individuals from 4 families with retinitis pigmentosa. One individual underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement.
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Retinal disorders v8.91 FSD1L Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated families reported in literature where affected individuals have a retinal phenotype and habrour biallelic FDS1L variants. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are more than 3 unrelated families reported in literature where affected individuals have a syndromic phenotype including retinal disease, and habrour biallelic FDS1L variants. In milder cases, retinitis pigmentosa was reported as the only symptom. Hence, this gene should be promoted to Green at the next update.
Retinal disorders v8.91 FSD1L Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: FSD1L.
Tag Q1_26_NHS_review tag was added to gene: FSD1L.
Retinal disorders v8.91 FSD1L Ida Ertmanska Phenotypes for gene: FSD1L were changed from Retinitis pigmentosa; retinal dystrophy to retinitis pigmentosa, MONDO:0019200; neurodevelopmental disorder, MONDO:0700092
Retinal disorders v8.90 FSD1L Ida Ertmanska Publications for gene: FSD1L were set to 41720099
Retinal disorders v8.89 FSD1L Ida Ertmanska Classified gene: FSD1L as Amber List (moderate evidence)
Retinal disorders v8.89 FSD1L Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated families reported in literature where affected individuals have a retinal phenotype and habrour biallelic FDS1L variants. Hence, this gene should be promoted to Green at the next update.
Retinal disorders v8.89 FSD1L Ida Ertmanska Gene: fsd1l has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.88 FSD1L Ida Ertmanska changed review comment from: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.; to: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Retinal disorders v8.88 FSD1L Ida Ertmanska changed review comment from: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.; to: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Retinal disorders v8.88 FSD1L Ida Ertmanska reviewed gene: FSD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 41720098, 41720099; Phenotypes: retinitis pigmentosa, MONDO:0019200, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brugada syndrome and cardiac sodium channel disease v3.15 KCNH2 Arina Puzriakova Tag disputed tag was added to gene: KCNH2.
Brugada syndrome and cardiac sodium channel disease v3.15 KCNH2 Arina Puzriakova Classified gene: KCNH2 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v3.15 KCNH2 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red inline with the review by Matthew Edwards, due to limited evidence and disputed classification for Brugada syndrome by ClinGen (assessed on 06/10/2025 - https://search.clinicalgenome.org/CCID:008947)
Brugada syndrome and cardiac sodium channel disease v3.15 KCNH2 Arina Puzriakova Gene: kcnh2 has been classified as Red List (Low Evidence).
Ophthalmological ciliopathies v5.13 MDM1 Arina Puzriakova Classified gene: MDM1 as Amber List (moderate evidence)
Ophthalmological ciliopathies v5.13 MDM1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 5 unrelated cases with retinal dystrophy due to biallelic variants in this gene. Localisation in cilia indicate that MDM1 variants are associated with a first-order ciliopathy.
Ophthalmological ciliopathies v5.13 MDM1 Arina Puzriakova Gene: mdm1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.88 MDM1 Arina Puzriakova Tag Q1_26_NHS_review tag was added to gene: MDM1.
Ophthalmological ciliopathies v5.12 MDM1 Arina Puzriakova Tag Q1_26_promote_green tag was added to gene: MDM1.
Retinal disorders v8.88 MDM1 Arina Puzriakova Classified gene: MDM1 as Amber List (moderate evidence)
Retinal disorders v8.88 MDM1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 5 unrelated cases with retinal dystrophy due to biallelic variants in this gene. Localisation in cilia indicate that MDM1 variants are associated with a first-order ciliopathy.
Retinal disorders v8.88 MDM1 Arina Puzriakova Gene: mdm1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.87 MDM1 Arina Puzriakova Tag Q1_26_promote_green tag was added to gene: MDM1.
Ophthalmological ciliopathies v5.12 MDM1 Arina Puzriakova Entity copied from Retinal disorders v8.87
Ophthalmological ciliopathies v5.12 MDM1 Arina Puzriakova gene: MDM1 was added
gene: MDM1 was added to Ophthalmological ciliopathies. Sources: Literature
new-gene-name tags were added to gene: MDM1.
Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDM1 were set to 41742423
Phenotypes for gene: MDM1 were set to Retinal dystrophy, HP:0000556
Penetrance for gene: MDM1 were set to unknown
Mode of pathogenicity for gene: MDM1 was set to Other
Retinal disorders v8.87 MDM1 Arina Puzriakova Phenotypes for gene: MDM1 were changed from Retinal dystrophy to Retinal dystrophy, HP:0000556
Publications for gene: MDM1 were updated from PMID: 41742423 to 41742423
Retinal disorders v8.86 MDM1 Arina Puzriakova edited their review of gene: MDM1: Added comment: PMID: 41742423 (2026) - 6 individuals from 5 unrelated families with biallelic predicted null variants in MDM1 (aka SAXO6). Ophthalmic examination revealed retinitis pigmentosa in 4 individuals and cone-rod dystrophy in 2 individuals.
SAXO6 was shown to co-localise with distinct ciliary microtubules from the immotile cilium present in rod and cone photoreceptors in human retina, and mass spectrometry demonstrated an interaction with α-tubulin, supporting its classification as a microtubule inner protein.

This gene is not yet associated with any phenotype in OMIM or G2P.; Changed rating: GREEN; Changed publications to: 41742423; Changed phenotypes to: Retinal dystrophy, HP:0000556; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.86 MDM1 Arina Puzriakova commented on gene: MDM1
Retinal disorders v8.86 MDM1 Arina Puzriakova Tag new-gene-name tag was added to gene: MDM1.
Intellectual disability v9.288 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241510; Odontohypophosphatasia, 146300; Hypophosphatasia, adult, 146300 to Hypophosphatasia, adult, OMIM:146300; Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500; Odontohypophosphatasia, OMIM:146300
Likely inborn error of metabolism v8.92 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile241500; Odontohypophosphatasia 146300 to Hypophosphatasia, adult, OMIM:146300; Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500; Odontohypophosphatasia, OMIM:146300
Undiagnosed metabolic disorders v1.643 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile 241500; Odontohypophosphatasia 146300 to Hypophosphatasia, adult, OMIM:146300; Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500; Odontohypophosphatasia, OMIM:146300
Fetal anomalies v6.141 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from HYPOPHOSPHATASIA to Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500
Early onset or syndromic epilepsy v8.126 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from Hypophosphatasia, adult 146300 AD, AR; Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR to Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500
Osteogenesis imperfecta v5.5 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Hypophosphatasia to Hypophosphatasia, adult, OMIM:146300; Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500
Rare syndromic craniosynostosis or isolated multisuture synostosis v6.4 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from hypophosphatasia to Hypophosphatasia, adult, OMIM:146300; Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500
Skeletal dysplasia v8.35 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from hypophosphatasia; skeletal dysplasias; skeletal dysplasias; Osteogenesis Imperfecta and Decreased Bone Density to Hypophosphatasia, adult, OMIM:146300; Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500
Intellectual disability v9.287 PHF5A Arina Puzriakova Classified gene: PHF5A as Amber List (moderate evidence)
Intellectual disability v9.287 PHF5A Arina Puzriakova Added comment: Comment on list classification: At least 10 unrelated individuals have been reported with de novo variants in the PHF5A gene. Syndromic developmental delay is reported in at least 9 of those cases, with five individuals developing intellectual disability later in life. Inclusion on this panel would also enable inclusion of the R27 Paediatric disorders super panel which appears relevant to the presentation. Therefore, this gene should be promoted to Green at the next GMS panel update.
Intellectual disability v9.287 PHF5A Arina Puzriakova Gene: phf5a has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.286 PHF5A Arina Puzriakova gene: PHF5A was added
gene: PHF5A was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: PHF5A.
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF5A were set to 33811463; 37422718
Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations
Review for gene: PHF5A was set to GREEN
Added comment: PMID: 33811463 - de novo nonsense variant c.162C>A / p.(Tyr54*) in PHF5A was reported in a patient with left microtia and bilateral absence of 12th ribs

PMID: 37422718 - 9 unrelated individuals with congenital malformations, including preauricular tags and hypospadias, short stature, subtle skeletal features, craniofacial dysmorphism. All had developmental delay, and five individuals developed ID later in life (1 severe, 4 mild). All harboured de novo heterozygous PHF5A variants, including 4 nonsense, 3 missense, 1 splice, and 1 start-loss variant.
Sources: Literature
Adult onset neurodegenerative disorder v8.11 JAM2 Lucy Jackson edited their review of gene: JAM2: Changed phenotypes to: Basal ganglia calcification 8, 618824, Primary familial brain calcification, Fahr syndrome
Adult onset neurodegenerative disorder v8.11 JAM2 Lucy Jackson gene: JAM2 was added
gene: JAM2 was added to Adult onset neurodegenerative disorder. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307; 37446066
Phenotypes for gene: JAM2 were set to Basal ganglia calcification 7, 618317; Primary familial brain calcification; Fahr syndrome
Review for gene: JAM2 was set to GREEN
Added comment: Sources: Literature
Intellectual disability v9.285 PPFIA3 Arina Puzriakova Tag watchlist_moi tag was added to gene: PPFIA3.
Early onset or syndromic epilepsy v8.125 ABI2 Ida Ertmanska Classified gene: ABI2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.125 ABI2 Ida Ertmanska Gene: abi2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.124 ABI2 Ida Ertmanska edited their review of gene: ABI2: Added comment: Comment on list classification: This gene will be recommended for a promotion to Green once the pre-print article is published.; Changed rating: GREEN
White matter disorders and cerebral calcification - narrow panel v7.13 ABI2 Ida Ertmanska Classified gene: ABI2 as Amber List (moderate evidence)
White matter disorders and cerebral calcification - narrow panel v7.13 ABI2 Ida Ertmanska Gene: abi2 has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - narrow panel v7.12 ABI2 Ida Ertmanska edited their review of gene: ABI2: Added comment: Comment on list classification: This gene will be recommended for a promotion to Green once the pre-print article is published.; Changed rating: GREEN
White matter disorders and cerebral calcification - narrow panel v7.12 ABI2 Ida Ertmanska gene: ABI2 was added
gene: ABI2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list,Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ABI2 was set to AMBER
Added comment: PMID: 40475134 Argilli et al., 2025 - PRE-PRINT
Report of 8 unrelated individuals with severe neurodevelopmental delays linked to heterozygous ABI2 missense variants, including a recurrent c.1472A>G, p.Tyr491Cys (6/8 individuals, confirmed de novo in 4). ABI2 c.1388T>C, p.Val463Ala was observed de novo in individual 7, and ABI2 c.1348C>T, p.Pro450Ser was detected in individual 8 (origin unknown). Seq method: Trio/singleton exome. Shared syndromic presentation with intellectual disability (7/7), epilepsy (6/7, 4 patients with onset under 2yo), hypoplasia of the corpus callosum (7/8), white matter abnormalities, hypotonia (5/6), developmental delay (7/7, moderate to severe, 2 with regression of skills) + other less common features.

ABI2 is not yet associated with a phenotype in OMIM (checked 27th Feb 2026).
Sources: Expert list, Literature
Early onset or syndromic epilepsy v8.124 ABI2 Ida Ertmanska gene: ABI2 was added
gene: ABI2 was added to Early onset or syndromic epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ABI2 was set to AMBER
Added comment: PMID: 40475134 Argilli et al., 2025 - PRE-PRINT
Report of 8 unrelated individuals with severe neurodevelopmental delays linked to heterozygous ABI2 missense variants, including a recurrent c.1472A>G, p.Tyr491Cys (6/8 individuals, confirmed de novo in 4). ABI2 c.1388T>C, p.Val463Ala was observed de novo in individual 7, and ABI2 c.1348C>T, p.Pro450Ser was detected in individual 8 (origin unknown). Seq method: Trio/singleton exome. Shared syndromic presentation with intellectual disability (7/7), epilepsy (6/7, 4 patients with onset under 2yo), hypoplasia of the corpus callosum (7/8), white matter abnormalities, hypotonia (5/6), developmental delay (7/7, moderate to severe, 2 with regression of skills) + other less common features.

ABI2 is not yet associated with a phenotype in OMIM (checked 27th Feb 2026).
Sources: Expert list, Literature
Intellectual disability v9.285 ABI2 Ida Ertmanska Publications for gene: ABI2 were set to 28397838; 39774290
Intellectual disability v9.284 ABI2 Ida Ertmanska Phenotypes for gene: ABI2 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v9.283 ABI2 Ida Ertmanska Mode of inheritance for gene: ABI2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v9.282 ABI2 Ida Ertmanska Classified gene: ABI2 as Amber List (moderate evidence)
Intellectual disability v9.282 ABI2 Ida Ertmanska Added comment: Comment on list classification: This gene will be recommended for a promotion to Green once the pre-print article is published.
Intellectual disability v9.282 ABI2 Ida Ertmanska Gene: abi2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.281 ABI2 Ida Ertmanska edited their review of gene: ABI2: Changed rating: GREEN
Intellectual disability v9.281 ABI2 Ida Ertmanska reviewed gene: ABI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40475134; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v9.281 PTPMT1 Arina Puzriakova Classified gene: PTPMT1 as Amber List (moderate evidence)
Intellectual disability v9.281 PTPMT1 Arina Puzriakova Gene: ptpmt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.280 KCNT2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 27th Feb 2026.
Intellectual disability v9.280 KCNT2 Ida Ertmanska Phenotypes for gene: KCNT2 were changed from ?Epileptic encephalopathy, early infantile 57, 617771 to Developmental and epileptic encephalopathy 57, OMIM:617771 developmental and epileptic encephalopathy, 57, MONDO:0033366
Early onset or syndromic epilepsy v8.123 KCNT2 Ida Ertmanska Phenotypes for gene: KCNT2 were changed from Developmental and epileptic encephalopathy 57, OMIM:617771 to Developmental and epileptic encephalopathy 57, OMIM:617771; developmental and epileptic encephalopathy, 57, MONDO:0033366
Early onset or syndromic epilepsy v8.122 KCNT2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 27th Feb 2026.
Early onset or syndromic epilepsy v8.122 KCNT2 Ida Ertmanska Phenotypes for gene: KCNT2 were changed from epilepsy; ?Epileptic encephalopathy, early infantile, 57 to Developmental and epileptic encephalopathy 57, OMIM:617771
Early onset or syndromic epilepsy v8.121 KCNT2 Ida Ertmanska Publications for gene: KCNT2 were set to 29069600; 29740868
Skeletal dysplasia v8.34 FGFR1 Ida Ertmanska Publications for gene: FGFR1 were set to
Clefting v6.20 FGFR1 Ida Ertmanska changed review comment from: Comment of mode of inheritance: 2/4 biallelic FGFR1 cases reported in literature presented with clefting. Hence, the MOI should remain as MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted, until more evidence emerges (moi-watchlist tag added).; to: Comment of mode of inheritance: 2/4 biallelic FGFR1 cases reported in literature presented with clefting. Hence, the MOI should remain as MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted, until more evidence emerges (watchlist_moi tag added).
Clefting v6.20 FGFR1 Ida Ertmanska Tag watchlist_moi tag was added to gene: FGFR1.
Clefting v6.20 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment of mode of inheritance: 2/4 biallelic FGFR1 cases reported in literature presented with clefting. Hence, the MOI should remain as MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted, until more evidence emerges (moi-watchlist tag added).
Clefting v6.20 FGFR1 Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v8.33 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: As only 1/4 biallelic FGFR1 cases presented with skeletal dysplasia (vertebral anomalies), the MOI should remain MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted for the Skeletal dysplasia panel.
Skeletal dysplasia v8.33 FGFR1 Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly v5.9 FGFR1 Ida Ertmanska Phenotypes for gene: FGFR1 were changed from Hartsfield syndrome, 615465 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465
Holoprosencephaly v5.8 FGFR1 Ida Ertmanska Publications for gene: FGFR1 were set to 19504604; 27363716
Holoprosencephaly v5.7 FGFR1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1.
Holoprosencephaly v5.7 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are 4 individuals reported in literature with biallelic FGFR1 variants and spectrum of holoprosencephaly: lobar, alobar, corpus callosum agenesis, and absent septum pellucidum with a hypoplastic anterior corpus callosum. Based on available evidence, the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update.
Holoprosencephaly v5.7 FGFR1 Ida Ertmanska changed review comment from: PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Presented with absent puberty, severe split hand/foot malformation (both hands and feet), cryptorchidism, absent septum pellucidum, hypoplastic anterior corpus callosum. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in carrier family members.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing. P1 had alobar HPE, P2 - lobar.; to: PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Presented with absent puberty, severe split hand/foot malformation (both hands and feet), cryptorchidism, absent septum pellucidum, hypoplastic anterior corpus callosum. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in carrier family members.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing. P1 had alobar HPE, P2 - lobar.

PMID: 23154428 Jarzabek et al., 2012
5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations.
P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits).

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026).
Holoprosencephaly v5.7 FGFR1 Ida Ertmanska edited their review of gene: FGFR1: Changed rating: GREEN; Changed publications to: 23154428, 23812909, 25394172; Changed phenotypes to: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly v5.7 FGFR1 Ida Ertmanska commented on gene: FGFR1
Limb disorders v7.20 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are more than 3 unrelated cases reported for both dominant and recessive FGFR1-related hypogonadotropic hypogonadism with split hand/foot malformation (more severe in recessive cases, see PMID: 25394172). The condition is usually caused by heterozygous kinase domain variants or homozygous extracellular domain mutations, but there are exceptions to this genotype-phenotype pattern (e.g. PMID: 27790375). Based on available evidence, the MOI for Limb disorders should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Limb disorders v7.20 FGFR1 Ida Ertmanska Phenotypes for gene: FGFR1 were changed from Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001; Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Pfeiffer syndrome,101600; Trigonocephaly 1,190440; Polydactyly to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465
Limb disorders v7.19 FGFR1 Ida Ertmanska Publications for gene: FGFR1 were set to 23154428; 23812909; 25394172; 27055092
Limb disorders v7.18 FGFR1 Ida Ertmanska Publications for gene: FGFR1 were set to
Limb disorders v7.17 FGFR1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1.
Limb disorders v7.17 FGFR1 Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172, 27055092; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v4.7 FGFR1 Ida Ertmanska changed review comment from: PMID: 27055092 Mazen et al., 2016
Male patient with congenital heart disease (CHD) and ambiguous genitalia, referred at 15 months. Consanguineous parents, positive family history for CHD. Trio WES revealed a homozygous FGFR1 c.1418G>A variant (hg38: c.1424G>A, p.Arg475Gln - rs747333248, 34 total alleles in gnomAD v4.1.0, no homozygotes). Patient also homozygous for a STARD3 p.Ala247Val mutation, no disease association reported for this gene. Ambiguous genitalia highlighted as unusual presentation in FGFR1-related disease.

PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in heterozygous family members.
In the 6 heterozygous pedigrees, CHH was an autosomal dominant trait with incomplete penetrance.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing.

PMID: 23154428 Jarzabek et al., 2012
5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations.
P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits).

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465.; to: PMID: 27055092 Mazen et al., 2016
Male patient with congenital heart disease (CHD) and ambiguous genitalia, referred at 15 months. Consanguineous parents, positive family history for CHD. Trio WES revealed a homozygous FGFR1 c.1418G>A variant (hg38: c.1424G>A, p.Arg475Gln - rs747333248, 34 total alleles in gnomAD v4.1.0, no homozygotes). Patient also homozygous for a STARD3 p.Ala247Val mutation, no disease association reported for this gene. Ambiguous genitalia highlighted as unusual presentation in FGFR1-related disease.

PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in heterozygous family members.
In the 6 heterozygous pedigrees, CHH was an autosomal dominant trait with incomplete penetrance.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing.

PMID: 23154428 Jarzabek et al., 2012
5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations.
P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits).

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026).
Hypogonadotropic hypogonadism (GMS) v4.7 FGFR1 Ida Ertmanska Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism type 2(OMIM 147950) to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465
Hypogonadotropic hypogonadism (GMS) v4.6 FGFR1 Ida Ertmanska Publications for gene: FGFR1 were set to
Hypogonadotropic hypogonadism (GMS) v4.5 FGFR1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1.
Hypogonadotropic hypogonadism (GMS) v4.5 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are more than 3 unrelated cases reported for both dominant and recessive FGFR1-related hypogonadotropic hypogonadism. The condition is usually caused by heterozygous kinase domain variants or homozygous extracellular domain mutations, but there are exceptions to this genotype-phenotype pattern (e.g. PMID: 27790375). Based on available evidence, the MOI for Hypogonadotropic hypogonadism (GMS) should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Hypogonadotropic hypogonadism (GMS) v4.5 FGFR1 Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172, 27055092; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Amelogenesis imperfecta v4.30 ALPL Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported in literature with both mono- and bi- allelic ALPL variants, with hypophosphatasia. Tooth loss and other dental signs are very common symptoms, particularly in paediatric-onset cases. Odontohypophosphatasia cases present with an isolated dental phenotype. Based on available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next update.; to: Comment on list classification: There are numerous individuals reported in literature with both mono- and bi- allelic ALPL variants, diagnosed with hypophosphatasia. Tooth loss and other dental signs are very common symptoms, particularly in paediatric-onset cases. Odontohypophosphatasia cases present with an isolated dental phenotype. Based on available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next update.
Amelogenesis imperfecta v4.30 ALPL Ida Ertmanska Classified gene: ALPL as Amber List (moderate evidence)
Amelogenesis imperfecta v4.30 ALPL Ida Ertmanska Added comment: Comment on list classification: There are numerous individuals reported in literature with both mono- and bi- allelic ALPL variants, with hypophosphatasia. Tooth loss and other dental signs are very common symptoms, particularly in paediatric-onset cases. Odontohypophosphatasia cases present with an isolated dental phenotype. Based on available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next update.
Amelogenesis imperfecta v4.30 ALPL Ida Ertmanska Gene: alpl has been classified as Amber List (Moderate Evidence).
Amelogenesis imperfecta v4.29 ALPL Ida Ertmanska Phenotypes for gene: ALPL were changed from to Odontohypophosphatasia, OMIM:146300; hypophosphatasia, MONDO:0018570
Amelogenesis imperfecta v4.28 ALPL Ida Ertmanska Publications for gene: ALPL were set to
Amelogenesis imperfecta v4.27 ALPL Ida Ertmanska Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Amelogenesis imperfecta v4.26 ALPL Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: ALPL.
Amelogenesis imperfecta v4.26 ALPL Ida Ertmanska reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500388, 34164522, 36101824, 39983296; Phenotypes: Odontohypophosphatasia, OMIM:146300, hypophosphatasia, MONDO:0018570; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Brugada syndrome and cardiac sodium channel disease v3.14 KCNH2 Matthew Edwards reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 39895654; Phenotypes: ; Mode of inheritance: None
Monogenic diabetes v3.10 WFS1 Ida Ertmanska Added comment: Comment on phenotypes: Phenotypes updated 27th Feb 2026.
Monogenic diabetes v3.10 WFS1 Ida Ertmanska Phenotypes for gene: WFS1 were changed from Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853 to Wolfram syndrome 1, OMIM:222300; Wolfram syndrome 1, MONDO:0009101; Wolfram-like syndrome, MONDO:0013673; autosomal dominant nonsyndromic hearing loss, MONDO:0019587
Monogenic diabetes v3.9 WFS1 Ida Ertmanska Publications for gene: WFS1 were set to 27217304; 27185633; 33693650
Monogenic diabetes v3.8 WFS1 Ida Ertmanska changed review comment from: PMID: 40779032 Sriram et al., 2025
Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3.
"Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY."
- MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in WFS1 (p > 0.05). Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort.
- Study identified a WFS1 p.Trp314Arg carrier: diagnosed with diabetes at age 33, BMI 22.9, no family history of diabetes, no known other pathogenic variant.

PMID: 39221226 Wu et al., 2024
Whole exome seq in 165 early-onset diabetes patients. Detected WFS1 compound heterozygous variants in two patients with Wolfram Syndrome-Like disorders.
WFS1 heterozygous variants were identified in patients P3-P5: c.1289C>T, p.S430L; c.1552A>G, p.M518V; c.676C>T, p.Q226*. All variants in this study affect exons 6 or 8 of WFS1. Heterozygous patients all had family history of diabetes, and were all diagnosed at 25 years old. Diagnosed with MODY rather than Wolfram Syndrome.
P1: female, diagnosed with diabetes at age 25years, compound het for WFS1 c.639_640dupGG, p.A214fs*74/c.985T>A, p.F329I; mother and father heterozygous for a variant each (both diagnosed with diabetes over age 35 years). Some affected family members were carriers of either variant, some had neither. Proband did not present with ketoacidosis, optic atrophy, deafness, or diabetes insipidus.
P2: female, diagnosed with diabetes at 13yo, compound het for WFS1 c.1280T>G, p.I427S/c.911T>C, p.I304T; no neurological, psychiatric, or high-frequency hearing issues, or optic nerve atrophy; brother, mother and father were heterozygous for a WFS1 variant each, not affected.

Functional analysis verified the impaired function of the WFS1 compound heterozygous variants: p.A214fs*74 and p.I427S significantly reduced wolframin levels (absent/near absent); p.I427S and the compound heterozygous p.I427S/p.I304T variants significantly activated the ERSE reporter, indicating high ER stress

PMID: 29207974 Bansal et al., 2017
Sequenced 22 diabetes related genes in almost 7000 individuals. Identified an individual with early onset diabetes (onset at 14 years old; no additional phenotypes associated with Wolfram syndrome), homozygous for WFS1: c.1672C > T; p.R558C.

PMID: 28271591 Morikawa et al. 2017
Japanese female patient with a de novo heterozygous WFS1 c.973_984del12, p.Asn325_Ile328del variant (not in gnomAD v4.1.0. She presented with impaired growth, bilateral congenital cataracts, severe hypermetropia, severe bilateral hearing loss, delayed development, insulin dependent diabetes mellitus - diagnosed with Wolfram Syndrome. In vitro testing showed that the WFS1 variant has a dominant negative effect, increasing ER stress.

PMID: 23903355 Bonnycastle et al., 2013
Large Finnish pedigree with AD diabetes, WFS1 p.Trp314Arg variant co-segregated completely with disease. Seq method: exome/Sanger. Age of diabetes onset ranged from 18 to 51 years. No history of ketoacidosis, 7/8 affected individuals treated with insulin. Functionally p.Trp314Arg appears to reduce the ability of WFS1 to protect against ER stress (study in HEK293T cells).

WFS1 is associated with AR Wolfram syndrome 1, OMIM:222300 (OMIM accessed 27th Feb 2026). The gene-disease associations between WFS1 and AR Wolfram syndrome & WFS1 and AD Wolfram-like syndrome are both classified as Definitive in ClinGen - diabetes being a feature of both.; to: PMID: 40779032 Sriram et al., 2025
Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3.
"Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY."
- MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in WFS1 (p > 0.05). Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort.
- Study identified a WFS1 p.Trp314Arg carrier: diagnosed with diabetes at age 33, BMI 22.9, no family history of diabetes, no known other pathogenic variant.

PMID: 39221226 Wu et al., 2024
Whole exome seq in 165 early-onset diabetes patients. Detected WFS1 compound heterozygous variants in two patients with Wolfram Syndrome-Like disorders.
WFS1 heterozygous variants were identified in patients P3-P5: c.1289C>T, p.S430L; c.1552A>G, p.M518V; c.676C>T, p.Q226*. All variants in this study affect exons 6 or 8 of WFS1. Heterozygous patients all had family history of diabetes, and were all diagnosed at 25 years old. Diagnosed with MODY rather than Wolfram Syndrome.
P1: female, diagnosed with diabetes at age 25years, compound het for WFS1 c.639_640dupGG, p.A214fs*74/c.985T>A, p.F329I; mother and father heterozygous for a variant each (both diagnosed with diabetes over age 35 years). Some affected family members were carriers of either variant, some had neither. Proband did not present with ketoacidosis, optic atrophy, deafness, or diabetes insipidus.
P2: female, diagnosed with diabetes at 13yo, compound het for WFS1 c.1280T>G, p.I427S/c.911T>C, p.I304T; no neurological, psychiatric, or high-frequency hearing issues, or optic nerve atrophy; brother, mother and father were heterozygous for a WFS1 variant each, not affected.

Functional analysis verified the impaired function of the WFS1 compound heterozygous variants: p.A214fs*74 and p.I427S significantly reduced wolframin levels (absent/near absent); p.I427S and the compound heterozygous p.I427S/p.I304T variants significantly activated the ERSE reporter, indicating high ER stress

PMID: 29207974 Bansal et al., 2017
Sequenced 22 diabetes related genes in almost 7000 individuals. Identified an individual with early onset diabetes (onset at 14 years old; no additional phenotypes associated with Wolfram syndrome), homozygous for WFS1: c.1672C > T; p.R558C.

PMID: 28271591 Morikawa et al. 2017
Japanese female patient with a de novo heterozygous WFS1 c.973_984del12, p.Asn325_Ile328del variant (not in gnomAD v4.1.0. She presented with impaired growth, bilateral congenital cataracts, severe hypermetropia, severe bilateral hearing loss, delayed development, insulin dependent diabetes mellitus - diagnosed with Wolfram Syndrome. In vitro testing showed that the WFS1 variant has a dominant negative effect, increasing ER stress.

PMID: 23903355 Bonnycastle et al., 2013
Large Finnish pedigree with AD diabetes, WFS1 p.Trp314Arg variant co-segregated completely with disease. Seq method: exome/Sanger. Age of diabetes onset ranged from 18 to 51 years. No history of ketoacidosis, 7/8 affected individuals treated with insulin. Functionally p.Trp314Arg appears to reduce the ability of WFS1 to protect against ER stress (study in HEK293T cells).

WFS1 is associated with AR Wolfram syndrome 1, OMIM:222300 (OMIM accessed 27th Feb 2026). The gene-disease associations between WFS1 and AR Wolfram syndrome, AD Wolfram-like syndrome, and AD Nonsyndromic hearing loss are all classified as Definitive in ClinGen.
Monogenic diabetes v3.8 WFS1 Ida Ertmanska edited their review of gene: WFS1: Changed phenotypes to: Wolfram syndrome 1, OMIM:222300, Wolfram syndrome 1, MONDO:0009101, Wolfram-like syndrome, MONDO:0013673
Monogenic diabetes v3.8 WFS1 Ida Ertmanska reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23903355, 28271591, 29207974, 39221226, 40779032; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinal disorders v8.86 MDM1 Siying Lin gene: MDM1 was added
gene: MDM1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDM1 were set to PMID: 41742423
Phenotypes for gene: MDM1 were set to Retinal dystrophy
Penetrance for gene: MDM1 were set to unknown
Mode of pathogenicity for gene: MDM1 was set to Other
Review for gene: MDM1 was set to GREEN
Added comment: Recent publication (PMID: 41742423) reporting 6 affected individuals from 5 families with biallelic loss of function variants in MDM1 (also known as SAXO6) and retinal dystrophy
Sources: Literature
Hereditary neuropathy or pain disorder v7.36 CHRNA3 Dmitrijs Rots gene: CHRNA3 was added
gene: CHRNA3 was added to Hereditary neuropathy or pain disorder. Sources: Literature
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to PMID: 33947782; 37161764
Phenotypes for gene: CHRNA3 were set to Familial Autonomic Ganglionopathy
Review for gene: CHRNA3 was set to GREEN
Added comment: 4 cases from 3 families are reported with biallelic LoF variants in the CHRNA3 causing familial dysautonomia:
PMID: 33947782;37161764
Sources: Literature
Monogenic diabetes v3.8 APPL1 Ida Ertmanska changed review comment from: PMID: 40779032 Sriram et al., 2025
Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3.
Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY.
Conflicting evidence:
- 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease)
- Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene)
- MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort.

PMID: 38464380 Shi et al., 2024
A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES.
Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead.

Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1.

PMID: 32854233 Ivanoshchuk et al., 2020
Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected.

PMID: 26073777 Prudente et al., 2015
Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES.
F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50.
F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48.
Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families.

Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism.

The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032.; to: EVIDENCE AGAINST ASSOCIATION:
PMID: 40779032 Sriram et al., 2025
Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3.
Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY.
Conflicting evidence:
- 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease)
- Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene)
- MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort.

PMID: 32854233 Ivanoshchuk et al., 2020
Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected.

The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032.

EVIDENCE SUPPORTING ASSOCIATION:
PMID: 38464380 Shi et al., 2024
A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES.
Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead.

Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1.

PMID: 26073777 Prudente et al., 2015
Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES.
F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50.
F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48.
Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families.

Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism.
Monogenic diabetes v3.8 APPL1 Ida Ertmanska Tag Q1_26_expert_review tag was added to gene: APPL1.
Tag Q1_26_demote_amber tag was added to gene: APPL1.
Monogenic diabetes v3.8 APPL1 Ida Ertmanska changed review comment from: Comment on list classification: There are 4 pedigrees reported in literature with monoallelic APPL1 variants and a diagnosis of familial MODY (PMID: 26073777; 38464380). However, the gene-disease association has recently been Refuted in ClinGen. Based on incomplete penetrance and the lack of enrichment for APPL1 variants in a large MODY cohort (PMID: 40779032), this gene will be suggested for a downgrade to Amber on Monogenic diabetes. Expert review will be sought regarding inclusion, as detection of extremely rare / low-penetrance MODY-causing variants in APPL1 may still be pertinent.; to: Comment on list classification: There are 4 pedigrees reported in literature with monoallelic APPL1 variants and a diagnosis of familial MODY (PMID: 26073777; 38464380). The variants have good evidence of impaired expression and/or function. However, the gene-disease association has recently been Refuted in ClinGen. Based on incomplete penetrance and the lack of enrichment for APPL1 variants in a large MODY cohort (PMID: 40779032), this gene will be suggested for a downgrade to Amber on Monogenic diabetes. Expert review will be sought regarding inclusion, as detection of extremely rare / low-penetrance MODY-causing variants in APPL1 may still be pertinent.
Monogenic diabetes v3.8 APPL1 Ida Ertmanska commented on gene: APPL1: Comment on list classification: There are 4 pedigrees reported in literature with monoallelic APPL1 variants and a diagnosis of familial MODY (PMID: 26073777; 38464380). However, the gene-disease association has recently been Refuted in ClinGen. Based on incomplete penetrance and the lack of enrichment for APPL1 variants in a large MODY cohort (PMID: 40779032), this gene will be suggested for a downgrade to Amber on Monogenic diabetes. Expert review will be sought regarding inclusion, as detection of extremely rare / low-penetrance MODY-causing variants in APPL1 may still be pertinent.
Monogenic diabetes v3.8 APPL1 Ida Ertmanska changed review comment from: PMID: 40779032 Sriram et al., 2025
Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3.
Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY.
Conflicting evidence:
- 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease)
- Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene)
- MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort.

PMID: 38464380 Shi et al., 2024
A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES.
Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead.

Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1.

PMID: 32854233 Ivanoshchuk et al., 2020
Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected.

PMID: 26073777 Prudente et al., 2015
Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES.
F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50.
F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48.
Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families.

Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism.

The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032.; to: PMID: 40779032 Sriram et al., 2025
Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3.
Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY.
Conflicting evidence:
- 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease)
- Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene)
- MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort.

PMID: 38464380 Shi et al., 2024
A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES.
Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead.

Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1.

PMID: 32854233 Ivanoshchuk et al., 2020
Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected.

PMID: 26073777 Prudente et al., 2015
Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES.
F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50.
F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48.
Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families.

Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism.

The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032.
Monogenic diabetes v3.8 APPL1 Ida Ertmanska edited their review of gene: APPL1: Changed publications to: 26073777, 32854233, 38464380, 40779032; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic diabetes v3.8 APPL1 Ida Ertmanska reviewed gene: APPL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26073777, 38464380, 40779032; Phenotypes: {Maturity-onset diabetes of the young, type 14}, OMIM:616511; Mode of inheritance: None
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Classified gene: CELSR3 as Amber List (moderate evidence)
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of patients reported with biallelic variants and CNS anomalies/ CAKUT. However, previous review suggests that the disease association is not convincing. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Gene: celsr3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: CELSR3.
Tag Q1_26_expert_review tag was added to gene: CELSR3.
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Phenotypes for gene: CELSR3 were changed from Neurodevelopmental disorder, MONDO:0700092, CELSR3-related to neurodevelopmental disorder, MONDO:0700092; congenital anomaly of kidney and urinary tract, MONDO:0019719
Fetal anomalies v6.138 CELSR3 Achchuthan Shanmugasundram edited their review of gene: CELSR3: Added comment: PMID:38429302 (2024) reported the identification of biallelic variants in CELSR3 gene in 12 individuals from 11 unrelated families. Six of 12 patients presented with homozygous missense and five with compound heterozygous missense CELSR3 variants, while one individual carried a heterozygous missense variant and an in-frame-deletion in trans.

Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).

There is also functional evidence available from zebrafish, where transient suppression of CELSR3 ortholog Celsr3 leads to anomalies in the developing CNS and urinary system.

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 26 February 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype. This gene is also rated green on the Fetal anomalies panel of PanelApp Australia.; Changed rating: GREEN; Changed publications to: 38429302; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, congenital anomaly of kidney and urinary tract, MONDO:0019719; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v8.5 IFT140 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 25th Feb 2026.
Cystic kidney disease v8.5 IFT140 Ida Ertmanska Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964; cystic kidney disease, MONDO:0002473 to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964; cystic kidney disease, MONDO:0002473; {Polycystic kidney disease 9, susceptibility to}, OMIM:621164
Renal ciliopathies v4.7 IFT140 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 25th Feb 2026.
Renal ciliopathies v4.7 IFT140 Ida Ertmanska Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964; cystic kidney disease, MONDO:0002473 to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964; cystic kidney disease, MONDO:0002473; {Polycystic kidney disease 9, susceptibility to}, OMIM:621164
Cystic kidney disease v8.4 NEK8 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated on 25th Feb 2026.
Cystic kidney disease v8.4 NEK8 Ida Ertmanska Phenotypes for gene: NEK8 were changed from polycystic kidney disease, MONDO:0020642; ?Nephronophthisis 9, OMIM:613824 to Polycystic kidney disease 8, OMIM:620903; polycystic kidney disease, MONDO:0020642; ?Nephronophthisis 9, OMIM:613824
Paediatric or syndromic cardiomyopathy v7.96 MYL2 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: MYL2.
Paediatric or syndromic cardiomyopathy v7.96 MYL2 Ida Ertmanska Publications for gene: MYL2 were set to 23365102; 31127036; 32453731; 33731536
Paediatric or syndromic cardiomyopathy v7.95 MYL2 Ida Ertmanska Publications for gene: MYL2 were set to
Paediatric or syndromic cardiomyopathy v7.94 MYL2 Ida Ertmanska Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424; Cardiomyopathy, hypertrophic, 10, OMIM:608758
Hypertrophic cardiomyopathy v5.29 MYL2 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and infantile onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; to: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and a fatal infantile-onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Paediatric or syndromic cardiomyopathy v7.93 MYL2 Ida Ertmanska commented on gene: MYL2: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and a fatal infantile-onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Paediatric or syndromic cardiomyopathy v7.93 MYL2 Ida Ertmanska reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 31127036, 32453731, 33731536; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424, Cardiomyopathy, hypertrophic, 10, OMIM:608758; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v5.29 MYL2 Ida Ertmanska Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10; Cardiomyopathy, familial hypertrophic, 10 (608758) to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424; Cardiomyopathy, hypertrophic, 10, OMIM:608758
Hypertrophic cardiomyopathy v5.28 MYL2 Ida Ertmanska Publications for gene: MYL2 were set to 27532257; 28369730; 30681346
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: MYL2.
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska edited their review of gene: MYL2: Changed publications to: 23365102, 31127036, 32453731, 33731536
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska commented on gene: MYL2: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and infantile onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska changed review comment from: BIALLELIC CASES:
PMID: 32453731 Manivannan et al., 2020
Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs*57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease.

PMID: 31127036 Marttila et al., 2019
Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs*7), and heterozygous for NEB:c.25435C>T, p.(Gln8479*) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full.

PMID: 23365102 Weterman et al., 2013
1. Group of 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C, heterozygous carriers unaffected. Founder variant suspected.
2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy.
All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy.

MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).; to: BIALLELIC CASES:
PMID: 33731536 Tamamitsu et al., 2021
Japanese girl, presented with infantile-onset skeletal myopathy and non-compaction cardiomyopathy at 4 months. She was compound het for MYL2 variants: c.431_432del, p.P144Rfs*57 and c.499T>C, p.*167Qext*?. Proband died at 12 months, elder sister similarly affected with same variants, deceased at 8 months.

PMID: 32453731 Manivannan et al., 2020
Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs*57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease.

PMID: 31127036 Marttila et al., 2019
Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs*7), and heterozygous for NEB:c.25435C>T, p.(Gln8479*) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full.

PMID: 23365102 Weterman et al., 2013
1. Group of 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C, heterozygous carriers unaffected. Founder variant suspected.
2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy.
All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy.

MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska changed review comment from: BIALLELIC CASES:
PMID: 32453731 Manivannan et al., 2020
Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs*57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease.

PMID: 31127036 Marttila et al., 2019
Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs*7), and heterozygous for NEB:c.25435C>T, p.(Gln8479*) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full.

PMID: 23365102 Weterman et al., 2013
1. 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C.
2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy.
All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy.

MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).; to: BIALLELIC CASES:
PMID: 32453731 Manivannan et al., 2020
Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs*57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease.

PMID: 31127036 Marttila et al., 2019
Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs*7), and heterozygous for NEB:c.25435C>T, p.(Gln8479*) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full.

PMID: 23365102 Weterman et al., 2013
1. Group of 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C, heterozygous carriers unaffected. Founder variant suspected.
2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy.
All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy.

MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 31127036, 32453731; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424, Cardiomyopathy, hypertrophic, 10, OMIM:608758; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v9.24 KIF21A Ida Ertmanska Publications for gene: KIF21A were set to 32686171; 34740919
Arthrogryposis v9.23 KIF21A Ida Ertmanska reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537; Phenotypes: arthrogryposis, MONDO:0008779, fetal akinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development v7.30 ATP1A2 Ida Ertmanska edited their review of gene: ATP1A2: Added comment: PMID: 37870493 Furukawa et al., 2023
Male individual born at 28 weeks, with respiratory distress and tonic seizures soon after birth. At 10 months presented with hypotonia, cryptorchidism, generalised tonic and facial clonic seizures, no eye contact or social responses. Brain MRI showed a markedly simplified gyral pattern. He was compound heterozygous for ATP1A2: c.1234C>T, p.Arg412* & ATP1A2: c.2288G>T, p.Arg763Leu - confirmed in trans.; Changed rating: GREEN; Changed publications to: 37870493; Changed phenotypes to: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, OMIM:619602; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development v7.30 ATP1A2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 24th Feb 2026.
Malformations of cortical development v7.30 ATP1A2 Ida Ertmanska Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, OMIM:619602
Dilated and arrhythmogenic cardiomyopathy v3.11 RPL3L Matthew Edwards reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 8921388, 32870709, 35323613, 32514796, 36291431, 37308880; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v7.93 RPL3L Matthew Edwards changed review comment from: functional data is limited, but good genetic evidence (see papers above), ClinGen DCM expert panl group ahve recently rated as moderate gene for DCM, and onset is early; to: functional data is limited, but good genetic evidence (see papers above), ClinGen DCM expert panl group ahve recently rated as moderate gene for DCM, and onset is early
Paediatric or syndromic cardiomyopathy v7.93 RPL3L Matthew Edwards reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 8921388, 32870709, 35323613, 32514796, 36291431, 37308880; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare genetic inflammatory skin disorders v4.16 NLRP1 Ida Ertmanska commented on gene: NLRP1: Comment on mode of inheritance: As there are now 3 unrelated cases reported with biallelic NLRP1 variants and an inflammatory skin disorder, the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Rare genetic inflammatory skin disorders v4.16 NLRP1 Ida Ertmanska Phenotypes for gene: NLRP1 were changed from AIADK; AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS to Autoinflammation with arthritis and dyskeratosis, OMIM:617388; Palmoplantar carcinoma, multiple self-healing, OMIM:615225
Rare genetic inflammatory skin disorders v4.15 NLRP1 Ida Ertmanska Publications for gene: NLRP1 were set to 27965258
Rare genetic inflammatory skin disorders v4.14 NLRP1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: NLRP1.
Rare genetic inflammatory skin disorders v4.14 NLRP1 Ida Ertmanska reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36763876; Phenotypes: Autoinflammation with arthritis and dyskeratosis, OMIM:617388, Palmoplantar carcinoma, multiple self-healing, OMIM:615225; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v9.279 CDC42BPB Ida Ertmanska changed review comment from: Further reports:
PMID: 35586607 French et al., 2022
Trio WGS cohort. Case 190 (suppl data): heterozygous for c.2605dup, p.Gln869ProfsTer85, de novo; phenotype described as 'CDC42BPB-related disease'.

PMID: 31785789 Turner et al., 2019
Cohort of 8000+ parent-child trios with NDDs. Cases from suppl data table S2, all variants are de novo:
NDAR_INVAZ651VGG_wes1 - patient with autism, het for CDC42BPB:c.4951G>A, p.Val1651Met - 18 alleles reported in gnomAD v4.1.0
13934.p1 - patient with autism, het for CDC42BPB:c.4805A>G, p.Gln1602Arg - not in gnomAD v4.1.0
13606.p1 - patient with autism, het for CDC42BPB:c.2290C>T, p.Arg764* - 2 alleles in gnomAD v4.1.0
14338.p1 - patient with autism, het for CDC42BPB:c.1891_1893dup, p.Ala631dup - not in gnomAD v4.1.0
DDD4K.04028 - patient with a developmental disorder, het for CDC42BPB:c.3349G>A, p.Ala1117Thr - 32 alleles in gnomAD v4.1.0
DDD4K.02790 - patient with a developmental disorder, het for CDC42BPB:c.1067dup, p.Tyr357Leufs*4 - not in gnomAD v4.1.0; to: Further reports (few clinical details):
PMID: 35586607 French et al., 2022
Trio WGS cohort. Case 190 (suppl data): heterozygous for c.2605dup, p.Gln869ProfsTer85, de novo; phenotype described as 'CDC42BPB-related disease'.

PMID: 31785789 Turner et al., 2019
Cohort of 8000+ parent-child trios with NDDs. Cases from suppl data table S2, all variants are de novo:
NDAR_INVAZ651VGG_wes1 - patient with autism, het for CDC42BPB:c.4951G>A, p.Val1651Met - 18 alleles reported in gnomAD v4.1.0
13934.p1 - patient with autism, het for CDC42BPB:c.4805A>G, p.Gln1602Arg - not in gnomAD v4.1.0
13606.p1 - patient with autism, het for CDC42BPB:c.2290C>T, p.Arg764* - 2 alleles in gnomAD v4.1.0
14338.p1 - patient with autism, het for CDC42BPB:c.1891_1893dup, p.Ala631dup - not in gnomAD v4.1.0
DDD4K.04028 - patient with a developmental disorder, het for CDC42BPB:c.3349G>A, p.Ala1117Thr - 32 alleles in gnomAD v4.1.0
DDD4K.02790 - patient with a developmental disorder, het for CDC42BPB:c.1067dup, p.Tyr357Leufs*4 - not in gnomAD v4.1.0
Early onset or syndromic epilepsy v8.120 CDC42BPB Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed on 24th Feb 2026.
Early onset or syndromic epilepsy v8.120 CDC42BPB Ida Ertmanska Phenotypes for gene: CDC42BPB were changed from CDC42BPB-related Neurodevelopmental Disorder; Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239
Intellectual disability v9.279 CDC42BPB Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 24th Feb 2026.
Intellectual disability v9.279 CDC42BPB Ida Ertmanska Phenotypes for gene: CDC42BPB were changed from CDC42BPB-related Neurodevelopmental Disorder; Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841; Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239
Intellectual disability v9.278 CDC42BPB Ida Ertmanska reviewed gene: CDC42BPB: Rating: AMBER; Mode of pathogenicity: None; Publications: 31785789, 35586607; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
White matter disorders and cerebral calcification - narrow panel v7.11 CCT3 Ida Ertmanska Classified gene: CCT3 as Amber List (moderate evidence)
White matter disorders and cerebral calcification - narrow panel v7.11 CCT3 Ida Ertmanska Added comment: Comment on list classification: There are 4 unrelated individuals reported with white matter anomalies and heterozygous CCT3 variants - tagged for promotion to Green at the next update.
White matter disorders and cerebral calcification - narrow panel v7.11 CCT3 Ida Ertmanska Gene: cct3 has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - narrow panel v7.10 CCT3 Ida Ertmanska gene: CCT3 was added
gene: CCT3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature
Q1_26_promote_green tags were added to gene: CCT3.
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034; neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125
Review for gene: CCT3 was set to GREEN
Added comment: PMID: 39480921 Kraft et al., 2024
4 individuals aged 2-8 yo, reported with heterozygous CCT3 variants (frameshift, missense, stop gain - all 4 confirmed de novo). Patients presented with ID, seizures, visual impairment and brain malformations. Phenotype spectrum: DD/ID (4/4, severe), seizures (2/4), visual impairment (3/4), pyramidal/cerebellar signs (4/4), brain MRI abnormalities (3/3). MRI findings included cerebellar atrophy, hypomyelination of white matter, hypoplasia of corpus callosum, and atrophy of optic tract, chiasm and optic nerves.

CCT3 is associated with Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 (OMIM accessed 20th Feb 2026).
Sources: Literature
Retinal disorders v8.86 FSD1L Siying Lin gene: FSD1L was added
gene: FSD1L was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720099
Phenotypes for gene: FSD1L were set to Retinitis pigmentosa; retinal dystrophy
Penetrance for gene: FSD1L were set to unknown
Mode of pathogenicity for gene: FSD1L was set to Other
Review for gene: FSD1L was set to GREEN
Added comment: Lin, Cancellieri, Cao et al (PMID 41720099) describe 6 affected individuals from 4 families with retinitis pigmentosa. 2 affected siblings had both retinitis pigmentosa and a mild neurodevelopmental phenotype; the remaining four individuals had apparent isolated retinal dystrophy, including one individual who underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement. This suggests that FSD1L-associated disease may therefore span a broad phenotypic spectrum, ranging from severe neurodevelopmental syndromes to, at its mildest, non-syndromic retinal dystrophy.
Sources: Literature
Monogenic hearing loss v5.57 ATOH1 Ida Ertmanska Mode of inheritance for gene: ATOH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Monogenic hearing loss v5.56 ATOH1 Ida Ertmanska edited their review of gene: ATOH1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v8.63 ATOH1 Ida Ertmanska Mode of inheritance for gene: ATOH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Monogenic hearing loss v5.56 ATOH1 Ida Ertmanska Mode of inheritance for gene: ATOH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v9.278 ATOH1 Ida Ertmanska changed review comment from: Comment on list classification: There are 4 individuals from 3 unrelated families reported in literature with biallelic ATOH1 variants and an associated neurodevelopmental syndrome. All patients presented with severe GDD/ID. Based on available evidence, this gene should be promoted to Green for Intellectual disability.; to: Comment on list classification: There are 4 individuals from 3 unrelated families reported in literature with biallelic ATOH1 variants and an associated neurodevelopmental syndrome. All patients presented with severe GDD/ID. Individuals with heterozygous ATOH1 variants present with hearing loss and mild cerebellar signs, without intellectual disability. Hene, based on available evidence, this gene should be promoted to Green for Intellectual disability with MOI set to BIALLELIC, autosomal or pseudoautosomal.
Intellectual disability v9.278 ATOH1 Ida Ertmanska Classified gene: ATOH1 as Amber List (moderate evidence)
Intellectual disability v9.278 ATOH1 Ida Ertmanska Added comment: Comment on list classification: There are 4 individuals from 3 unrelated families reported in literature with biallelic ATOH1 variants and an associated neurodevelopmental syndrome. All patients presented with severe GDD/ID. Based on available evidence, this gene should be promoted to Green for Intellectual disability.
Intellectual disability v9.278 ATOH1 Ida Ertmanska Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.277 ATOH1 Ida Ertmanska gene: ATOH1 was added
gene: ATOH1 was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: ATOH1.
Mode of inheritance for gene: ATOH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATOH1 were set to 9367153; 21146598; 33111345; 35518571; 41592563
Phenotypes for gene: ATOH1 were set to ?Deafness, autosomal dominant 89 , OMIM:620284; hearing loss, autosomal dominant 89, MONDO:0859528; pontocerebellar hypoplasia, MONDO:0020135
Review for gene: ATOH1 was set to GREEN
Added comment: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss (7/7, mild to severe), cerebellar symptoms (4/6), and a pattern of brainstem malformations (7/7). Cerebellar symptoms are noted to be subtle: motor delay, balance issues, mild ataxia, tremor, and other cerebellar signs. Intellectual disability ascertained in 1/7 individuals - this patient also carried a RNU4-2 variant, thought to be responsible for ID in this case.
Authors also report a homozygous early-truncating variant c.102dup, (p.Pro35AlafsTer18), causing a distinct neurodevelopmental syndrome with severe pontocerebellar hypoplasia, severe ID, and profound hearing loss. Heterozygous parents were asymptomatic.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant NM_005172.1:c.481C>G, p.(Arg161Gly) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: ID, generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska edited their review of gene: ATOH1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska changed review comment from: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss. Subtle cerebellar symptoms were present in 4/6 patients. In addition, 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, presenting with pontocerebellar hypoplasia. Functional evidence from mouse models supports this gene-disease assiociation. Based on available evidence, this gene should be promoted to Green on Ataxia and cerebellar anomalies - narrow panel, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. ; to: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss. Subtle cerebellar symptoms were present in 4/6 patients. In addition, 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, presenting with pontocerebellar hypoplasia. Functional evidence from mouse models supports this gene-disease assiociation - atoh1-/- knockout mice lack cerebellar granule neurons. Based on available evidence, this gene should be promoted to Green on Ataxia and cerebellar anomalies - narrow panel, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska changed review comment from: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss (7/7, mild to severe), cerebellar symptoms (4/6), and a pattern of brainstem malformations (7/7). Cerebellar symptoms are noted to be subtle: motor delay, balance issues, mild ataxia, tremor, and other cerebellar signs.
Heterozygous variants detected: c.1030dup (p.His344ProfsTer6) - recurred de novo in 3 individuals; c.853-856dup (p.Ser286LeufsTer65); c.1053del (p.Asp351GlufsTer11).
Authors also report a homozygous early-truncating variant c.102dup, (p.Pro35AlafsTer18), causing a distinct neurodevelopmental syndrome with severe pontocerebellar hypoplasia, severe ID, and profound hearing loss. Heterozygous parents were asymptomatic.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant NM_005172.1:c.481C>G, p.(Arg161Gly) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: ID, generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).; to: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss (7/7, mild to severe), cerebellar symptoms (4/6), and a pattern of brainstem malformations (7/7). Cerebellar symptoms are noted to be subtle: motor delay, balance issues, mild ataxia, tremor, and other cerebellar signs.
Heterozygous variants detected: c.1030dup (p.His344ProfsTer6) - recurred de novo in 3 individuals; c.853-856dup (p.Ser286LeufsTer65); c.1053del (p.Asp351GlufsTer11).
Authors also report a homozygous early-truncating variant c.102dup, (p.Pro35AlafsTer18), causing a distinct neurodevelopmental syndrome with severe pontocerebellar hypoplasia, severe ID, and profound hearing loss. Heterozygous parents were asymptomatic.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant NM_005172.1:c.481C>G, p.(Arg161Gly) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: ID, generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes a lack of cerebellar granule neurons, resulting in hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska changed review comment from: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss (with or without a cerebellar disorder). 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, with pontocerebellar hypoplasia. Based on available evidence, this gene should be promoted to Green on Ataxia and cerebellar anomalies - narrow panel, with MOI set to BOTH; to: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss. Subtle cerebellar symptoms were present in 4/6 patients. In addition, 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, presenting with pontocerebellar hypoplasia. Functional evidence from mouse models supports this gene-disease assiociation. Based on available evidence, this gene should be promoted to Green on Ataxia and cerebellar anomalies - narrow panel, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska changed review comment from: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss, subtle motor impairments, and a pattern of brainstem malformations. Authors also report a homozygous early-truncating variant, causing a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant (NM_005172.1:c.481C>G) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Sources: Literature; to: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss (7/7, mild to severe), cerebellar symptoms (4/6), and a pattern of brainstem malformations (7/7). Cerebellar symptoms are noted to be subtle: motor delay, balance issues, mild ataxia, tremor, and other cerebellar signs.
Heterozygous variants detected: c.1030dup (p.His344ProfsTer6) - recurred de novo in 3 individuals; c.853-856dup (p.Ser286LeufsTer65); c.1053del (p.Asp351GlufsTer11).
Authors also report a homozygous early-truncating variant c.102dup, (p.Pro35AlafsTer18), causing a distinct neurodevelopmental syndrome with severe pontocerebellar hypoplasia, severe ID, and profound hearing loss. Heterozygous parents were asymptomatic.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant NM_005172.1:c.481C>G, p.(Arg161Gly) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: ID, generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska Classified gene: ATOH1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska Added comment: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss (with or without a cerebellar disorder). 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, with pontocerebellar hypoplasia. Based on available evidence, this gene should be promoted to Green on Ataxia and cerebellar anomalies - narrow panel, with MOI set to BOTH
Ataxia and cerebellar anomalies - narrow panel v8.62 ATOH1 Ida Ertmanska Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v5.55 ATOH1 Ida Ertmanska changed review comment from: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss, subtle motor impairments, and a pattern of brainstem malformations. Authors also report a homozygous early-truncating variant, causing a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant (NM_005172.1:c.481C>G) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).; to: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss (7/7, mild to severe), cerebellar symptoms (4/6), and a pattern of brainstem malformations (7/7). Cerebellar symptoms are noted to be subtle: motor delay, balance issues, mild ataxia, tremor, and other cerebellar signs.
Heterozygous variants detected: c.1030dup (p.His344ProfsTer6) - recurred de novo in 3 individuals; c.853-856dup (p.Ser286LeufsTer65); c.1053del (p.Asp351GlufsTer11).
Authors also report a homozygous early-truncating variant c.102dup, (p.Pro35AlafsTer18), causing a distinct neurodevelopmental syndrome with severe pontocerebellar hypoplasia, severe ID, and profound hearing loss. Heterozygous parents were asymptomatic.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant NM_005172.1:c.481C>G, p.(Arg161Gly) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: ID, generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Ataxia and cerebellar anomalies - narrow panel v8.61 ATOH1 Ida Ertmanska gene: ATOH1 was added
gene: ATOH1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Q1_26_promote_green tags were added to gene: ATOH1.
Mode of inheritance for gene: ATOH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATOH1 were set to 9367153; 21146598; 33111345; 35518571; 41592563
Phenotypes for gene: ATOH1 were set to ?Deafness, autosomal dominant 89 , OMIM:620284; hearing loss, autosomal dominant 89, MONDO:0859528; pontocerebellar hypoplasia, MONDO:0020135
Review for gene: ATOH1 was set to GREEN
Added comment: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss, subtle motor impairments, and a pattern of brainstem malformations. Authors also report a homozygous early-truncating variant, causing a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant (NM_005172.1:c.481C>G) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Sources: Literature
Monogenic hearing loss v5.55 ATOH1 Ida Ertmanska changed review comment from: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss (with or without a cerebellar disorder). In addition, 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, with pontocerebellar hypoplasia. Hearing loss was reported in 2 unrelated recessive cases. Mouse models are supportive of gene-disease association, with atoh1-/- knockouts resulting in a hearing impairment, and cerebellar and cochlear malformations. Based on available evidence, this gene should be promoted to Green for Monogenic hearing loss, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; to: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss (with or without a cerebellar disorder). In addition, 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, with pontocerebellar hypoplasia. Hearing loss was reported in 2 unrelated recessive cases. Mouse models are supportive of gene-disease association, with atoh1-/- knockouts resulting in a hearing impairment, and cerebellar and cochlear malformations. Based on available evidence, this gene should be promoted to Green for Monogenic hearing loss, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Monogenic hearing loss v5.55 ATOH1 Ida Ertmanska Classified gene: ATOH1 as Amber List (moderate evidence)
Monogenic hearing loss v5.55 ATOH1 Ida Ertmanska Added comment: Comment on list classification: There are 6 unrelated families with heterozygous ATOH1 variants, presenting with hearing loss (with or without a cerebellar disorder). In addition, 4 individuals from 3 unrelated families have been reported with biallelic ATOH1 variants, with pontocerebellar hypoplasia. Hearing loss was reported in 2 unrelated recessive cases. Mouse models are supportive of gene-disease association, with atoh1-/- knockouts resulting in a hearing impairment, and cerebellar and cochlear malformations. Based on available evidence, this gene should be promoted to Green for Monogenic hearing loss, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Monogenic hearing loss v5.55 ATOH1 Ida Ertmanska Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v5.54 ATOH1 Ida Ertmanska changed review comment from: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss, subtle motor impairments, and a pattern of brainstem malformations. Authors also report a homozygous early-truncating variant, causing a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant (NM_005172.1:c.481C>G) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).; to: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss, subtle motor impairments, and a pattern of brainstem malformations. Authors also report a homozygous early-truncating variant, causing a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant (NM_005172.1:c.481C>G) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

PMID: 27431290 Anazi et al., 2017
Cohort of ID patients. Patient 15DG1898 was homozygous for ATOH1: c.212del, p.(Gly71Alafs*36); clinical presentation: generalised hypotonia, nystagmus, pontocerebellar hypoplasia, brain atrophy (frontal lobe). No mention of hearing loss (not assessed?).

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Monogenic hearing loss v5.54 ATOH1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: ATOH1.
Monogenic hearing loss v5.54 ATOH1 Ida Ertmanska edited their review of gene: ATOH1: Changed phenotypes to: ?Deafness, autosomal dominant 89 , OMIM:620284, hearing loss, autosomal dominant 89, MONDO:0859528, pontocerebellar hypoplasia, MONDO:0020135
Monogenic hearing loss v5.54 ATOH1 Ida Ertmanska Publications for gene: ATOH1 were set to
Monogenic hearing loss v5.53 ATOH1 Ida Ertmanska Phenotypes for gene: ATOH1 were changed from ?Deafness, autosomal dominant 89 , OMIM:620284; hearing loss, autosomal dominant 89, MONDO:0859528 to ?Deafness, autosomal dominant 89 , OMIM:620284; hearing loss, autosomal dominant 89, MONDO:0859528; pontocerebellar hypoplasia, MONDO:0020135
Monogenic hearing loss v5.52 ATOH1 Ida Ertmanska Phenotypes for gene: ATOH1 were changed from to ?Deafness, autosomal dominant 89 , OMIM:620284; hearing loss, autosomal dominant 89, MONDO:0859528
Monogenic hearing loss v5.51 ATOH1 Ida Ertmanska changed review comment from: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss, subtle motor impairments, and a pattern of brainstem malformations. Authors also report a homozygous early-truncating variant, causing a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant (NM_005172.1:c.481C>G) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter. Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).; to: PMID: 41592563 Bertola et al., 2026
Report of 5 unrelated families with heterozygous frameshift variants in ATOH1 associated with hearing loss, subtle motor impairments, and a pattern of brainstem malformations. Authors also report a homozygous early-truncating variant, causing a distinct neurodevelopmental syndrome with highly severe cerebellar and pontine hypoplasia.

PMID: 35518571 Višnjar et al., 2022
A homozygous missense variant (NM_005172.1:c.481C>G) in the ATOH1 gene was identified in the proband and his affected sister, segregating with apparently recessive pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss.
Brain MRI findings were: posteriorly thin corpus callosum, small posterior fossa with the upward displacement of the tentorium, small cerebellum with more severely hypoplastic vermis than hemispheres, and small brainstem.

PMID: 33111345 Brownstein et al., 2020
Family HL263: Mizrahi Jewish family, affected individuals heterozygous for ATOH1 c.1030delC, p.His344fs17Ter (affects C-terminus). Variant co-segregated over five generations with progressive non-syndromic hearing loss, with onset at birth or early childhood. Method: WES.
Western analysis revealed a significantly slower rate of degradation for mutant ATOH1 protein compared to wild-type ATOH1. Increased protein stability = untimely expression leading to hearing loss.

Functional evidence:
Loss of Atoh1 in mice causes hearing impairment, cerebellar and cochlear malformations, and death (PMID: 9367153, Ben-Arie et al., 1997. ATOH1 previously known as MATH1).
Conditional deletion of Atoh1 leads to lack of differentiated inner ear hair cells (PMID: 21146598 Pan et al., 2010).

ATOH1 is putatively linked to ?Deafness, autosomal dominant 89, MIM:620284 in OMIM (accessed 23rd Feb 2026).
Monogenic hearing loss v5.51 ATOH1 Ida Ertmanska reviewed gene: ATOH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9367153, 21146598, 33111345, 35518571, 41592563; Phenotypes: ?Deafness, autosomal dominant 89 , OMIM:620284; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Sophie Hambleton changed review comment from: In addition to its behaviour as an AR disease gene for PRAAS (ie an autoinflammatory disorder), de novo, heterozygous variants in PSMB10 are now recognised to cause a distinct phenotype, sometimes known as "PRAAS-ID", characterised by profound lymphopenia, combined immunodeficiency and inflammatory phenomena resembling Omenn's syndrome. A total of 10 cases have been reported at time of writing (summarised in doi:10.70962/jhi.20250096), of whom six bore p.Gly201Arg, two p.Ser208Phe and one each p.Asp205Ala and p.Asp56His.; to: In addition to its behaviour as an AR disease gene for PRAAS (ie an autoinflammatory disorder), de novo, heterozygous variants in PSMB10 are now recognised to cause a distinct phenotype, sometimes known as "PRAAS-ID", characterised by profound lymphopenia, combined immunodeficiency and inflammatory phenomena resembling Omenn's syndrome. A total of 10 cases have been reported at time of writing (summarised in doi:10.70962/jhi.20250096), of whom six bore p.Gly201Arg, two p.Ser208Phe and one each p.Asp205Ala and p.Asp56His. Recognised as a monoallelic form of combined immunodeficiency in Table 1 of the 2024 IUIS classification of inborn errors of immunity.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 PSMB10 Sophie Hambleton reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38503300, 39734035, doi:10.70962/jhi.20250096; Phenotypes: SCID, Omenn syndrome, liver disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v3.19 SPTA1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes checked 23rd Feb 2026.
Rare anaemia v3.19 SPTA1 Ida Ertmanska Phenotypes for gene: SPTA1 were changed from Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; 270970 Spherocytosis, type 3; 130600 Elliptocytosis-2; RBC membrane abnormality; 266140 Pyropoikilocytosis; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140 to Elliptocytosis-2, OMIM:130600; Pyropoikilocytosis, OMIM:266140; Spherocytosis, type 3, OMIM:270970
Limb disorders v7.17 FAAP100 Ida Ertmanska Classified gene: FAAP100 as Amber List (moderate evidence)
Limb disorders v7.17 FAAP100 Ida Ertmanska Added comment: Comment on list classification: 3 unrelated families have been reported in literature with biallelic FAAP100 variants and diagnosis of Fanconi anemia. Limb abnormalities were reported in all 3 pedigrees. Mouse and zebrafish knockout models support the association with the disease. Based on available evidence, this gene should be promoted to Green at the next update.
Limb disorders v7.17 FAAP100 Ida Ertmanska Gene: faap100 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v2.13 FAAP100 Ida Ertmanska changed review comment from: PMID: 40232843 Kuehl et al., 2025
Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum.
Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models.

PMID: 40244696 Harrison et al., 2025
Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy.
Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia.
Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het.

Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child that died at 14 months due to respiratory failure. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het.

FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026).
Sources: Literature; to: PMID: 40232843 Kuehl et al., 2025
Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum.
Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models.

PMID: 40244696 Harrison et al., 2025
Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy.
Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia.
Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het.

Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child (individual C) that died at 14 months due to respiratory failure. Individual C presented with presented with congenital anomalies including bilateral microtia, reduced radius size in both forearms, absence of both thumbs, and a right radial club hand. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het.

FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026).
Sources: Literature
Limb disorders v7.16 FAAP100 Ida Ertmanska changed review comment from: PMID: 40232843 Kuehl et al., 2025
Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum.
Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models.

PMID: 40244696 Harrison et al., 2025
Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy.
Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia.
Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het.

Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child that died at 14 months due to respiratory failure. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het.

FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026).
Sources: Literature; to: PMID: 40232843 Kuehl et al., 2025
Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum.
Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models.

PMID: 40244696 Harrison et al., 2025
Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy.
Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia.
Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het.

Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child (individual C) that died at 14 months due to respiratory failure. Individual C presented with presented with congenital anomalies including bilateral microtia, reduced radius size in both forearms, absence of both thumbs, and a right radial club hand. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het.

FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026).
Sources: Literature
Limb disorders v7.16 FAAP100 Ida Ertmanska Phenotypes for gene: FAAP100 were changed from Fanconi anemia, complementation group X, OMIM:621258 to Fanconi anemia, complementation group X, OMIM:621258; Fanconi anemia, MONDO:0019391
Confirmed Fanconi anaemia or Bloom syndrome v2.13 FAAP100 Ida Ertmanska Phenotypes for gene: FAAP100 were changed from Fanconi anemia, complementation group X, OMIM:621258 to Fanconi anemia, complementation group X, OMIM:621258; Fanconi anemia, MONDO:0019391
Confirmed Fanconi anaemia or Bloom syndrome v2.12 FAAP100 Ida Ertmanska Classified gene: FAAP100 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v2.12 FAAP100 Ida Ertmanska Added comment: Comment on list classification: 3 unrelated families have been reported in literature with biallelic FAAP100 variants and diagnosis of Fanconi anemia. Mouse and zebrafish knockout models support the association with the disease. Based on available evidence, this gene should be promoted to Green at the next update.
Confirmed Fanconi anaemia or Bloom syndrome v2.12 FAAP100 Ida Ertmanska Gene: faap100 has been classified as Amber List (Moderate Evidence).
Limb disorders v7.15 FAAP100 Ida Ertmanska gene: FAAP100 was added
gene: FAAP100 was added to Limb disorders. Sources: Literature
Q1_26_promote_green tags were added to gene: FAAP100.
Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP100 were set to 40232843; 40244696
Phenotypes for gene: FAAP100 were set to Fanconi anemia, complementation group X, OMIM:621258
Review for gene: FAAP100 was set to GREEN
Added comment: PMID: 40232843 Kuehl et al., 2025
Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum.
Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models.

PMID: 40244696 Harrison et al., 2025
Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy.
Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia.
Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het.

Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child that died at 14 months due to respiratory failure. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het.

FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026).
Sources: Literature
Confirmed Fanconi anaemia or Bloom syndrome v2.11 FAAP100 Ida Ertmanska gene: FAAP100 was added
gene: FAAP100 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Literature
Q1_26_promote_green tags were added to gene: FAAP100.
Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP100 were set to 40232843; 40244696
Phenotypes for gene: FAAP100 were set to Fanconi anemia, complementation group X, OMIM:621258
Review for gene: FAAP100 was set to GREEN
Added comment: PMID: 40232843 Kuehl et al., 2025
Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum.
Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models.

PMID: 40244696 Harrison et al., 2025
Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy.
Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia.
Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het.

Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child that died at 14 months due to respiratory failure. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het.

FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026).
Sources: Literature
Malformations of cortical development v7.29 CCT8 Arina Puzriakova Entity copied from Intellectual disability v9.276
Malformations of cortical development v7.29 CCT8 Arina Puzriakova gene: CCT8 was added
gene: CCT8 was added to Malformations of cortical development. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT8 were set to 39480921
Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities
DDG2P v6.424 UROC1 Achchuthan Shanmugasundram edited their review of gene: UROC1: Changed phenotypes to: UROC1-related urocanase deficiency, OMIM:276880, MONDO:0010167
DDG2P v6.424 UROC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UROC1 was changed from Other to None
DDG2P v6.424 TRIT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRIT1 was changed from Other - please provide details in the comments to None
DDG2P v6.423 MIR184 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MIR184 was changed from Other to None
DDG2P v6.423 CHRNA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CHRNA2 was changed from Other to None
DDG2P v6.422 ZSCAN10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZSCAN10 was changed from Other to None
DDG2P v6.421 ZNF713 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZNF713 was changed from Other to None
DDG2P v6.421 ZNF526 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZNF526 was changed from Other to None
DDG2P v6.420 ZNF407 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZNF407 was changed from Other to None
DDG2P v6.420 ZMYND8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZMYND8 was changed from Other to None
DDG2P v6.419 CYHR1 Achchuthan Shanmugasundram changed review comment from: The HGNC approved official gene symbol for CYHR1 is ZFTRAF1.; to: The 'new-gene-symbol' tag has been added as the HGNC approved official gene symbol for CYHR1 is ZFTRAF1.
DDG2P v6.419 CYHR1 Achchuthan Shanmugasundram commented on gene: CYHR1: The HGNC approved official gene symbol for CYHR1 is ZFTRAF1.
DDG2P v6.419 CYHR1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: CYHR1.
DDG2P v6.419 CYHR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYHR1 was changed from Other to None
DDG2P v6.418 ZFHX3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZFHX3 was changed from Other to None
DDG2P v6.417 ZBTB47 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB47 was changed from Other to None
DDG2P v6.416 ZBTB16 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB16 was changed from Other to None
DDG2P v6.416 ZBTB11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB11 was changed from Other to None
DDG2P v6.415 YY1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: YY1 was changed from Other to None
DDG2P v6.415 YWHAZ Achchuthan Shanmugasundram Mode of pathogenicity for gene: YWHAZ was changed from Other to None
DDG2P v6.414 WRAP53 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WRAP53 was changed from Other to None
DDG2P v6.414 WNT7A Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT7A was changed from Other to None
DDG2P v6.413 WNT5A Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT5A was changed from Other to None
DDG2P v6.413 WNT4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT4 was changed from Other to None
DDG2P v6.412 WDR81 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR81 was changed from Other to None
DDG2P v6.412 WDR5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR5 was changed from Other to None
DDG2P v6.411 WDR45B Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR45B was changed from Other - please provide details in the comments to None
DDG2P v6.411 WDR37 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR37 was changed from Other to None
DDG2P v6.410 WDR11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR11 was changed from Other - please provide details in the comments to None
DDG2P v6.409 VPS4A Achchuthan Shanmugasundram Mode of pathogenicity for gene: VPS4A was changed from Other to None
DDG2P v6.409 VANGL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: VANGL1 was changed from Other to None
DDG2P v6.408 VAMP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: VAMP2 was changed from Other to None
DDG2P v6.407 VAC14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: VAC14 was changed from Other to None
DDG2P v6.406 UTP4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UTP4 was changed from Other to None
DDG2P v6.405 USP14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: USP14 was changed from Other to None
DDG2P v6.405 UQCRQ Achchuthan Shanmugasundram Mode of pathogenicity for gene: UQCRQ was changed from Other to None
DDG2P v6.404 UNC45B Achchuthan Shanmugasundram Mode of pathogenicity for gene: UNC45B was changed from Other to None
DDG2P v6.404 UHRF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UHRF1 was changed from Other to None
DDG2P v6.403 UFSP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UFSP2 was changed from Other to None
DDG2P v6.402 UFC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UFC1 was changed from Other to None
DDG2P v6.402 UBR7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UBR7 was changed from Other - please provide details in the comments to None
DDG2P v6.401 U2AF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: U2AF2 was changed from Other to None
DDG2P v6.400 TUFM Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUFM was changed from Other to None
DDG2P v6.399 TUBGCP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBGCP2 was changed from Other to None
DDG2P v6.398 TUBG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBG1 was changed from Other to None
DDG2P v6.397 TUBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBB3 was changed from Other to None
DDG2P v6.397 TUBB2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBB2A was changed from Other to None
DDG2P v6.396 TUBB Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBB was changed from Other to None
DDG2P v6.396 TTI2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TTI2 was changed from Other to None
DDG2P v6.395 TSHR Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSHR was changed from Other to None
DDG2P v6.395 TSEN34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN34 was changed from Other to None
DDG2P v6.394 TSEN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN2 was changed from Other to None
DDG2P v6.393 TSEN15 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN15 was changed from Other to None
DDG2P v6.392 TRRAP Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRRAP was changed from Other to None
DDG2P v6.392 TRPV4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPV4 was changed from Other to None
DDG2P v6.391 TRPV3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPV3 was changed from Other to None
DDG2P v6.391 TRPM3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPM3 was changed from Other to None
DDG2P v6.390 TRMT10C Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRMT10C was changed from Other to None
DDG2P v6.390 TRIO Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRIO was changed from Other to None
DDG2P v6.389 TRAPPC2L Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRAPPC2L was changed from Other to None
DDG2P v6.388 TRAPPC10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRAPPC10 was changed from Other to None
DDG2P v6.388 TRAF7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRAF7 was changed from Other to None
DDG2P v6.387 TRA2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRA2B was changed from Other to None
DDG2P v6.386 TPRKB Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPRKB was changed from Other to None
DDG2P v6.385 TPM3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPM3 was changed from Other to None
DDG2P v6.385 TPM2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPM2 was changed from Other to None
DDG2P v6.384 TNPO2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TNPO2 was changed from Other to None
DDG2P v6.383 TMEM63A Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM63A was changed from Other to None
DDG2P v6.383 TMEM216 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM216 was changed from Other to None
DDG2P v6.382 TMEM163 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM163 was changed from Other to None
DDG2P v6.382 TMEM135 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM135 was changed from Other to None
DDG2P v6.381 TMEM106B Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM106B was changed from Other to None
DDG2P v6.381 TLL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TLL1 was changed from Other to None
DDG2P v6.380 TK2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TK2 was changed from Other to None
DDG2P v6.380 THOC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: THOC2 was changed from Other to None
DDG2P v6.379 THG1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: THG1L was changed from Other to None
DDG2P v6.379 TGFB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TGFB1 was changed from Other to None
DDG2P v6.378 TFRC Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFRC was changed from Other to None
DDG2P v6.378 TFE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFE3 was changed from Other to None
DDG2P v6.377 TFAP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFAP2B was changed from Other to None
DDG2P v6.376 TFAP2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFAP2A was changed from Other to None
DDG2P v6.376 TELO2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TELO2 was changed from Other to None
DDG2P v6.375 TDRD7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TDRD7 was changed from Other to None
DDG2P v6.375 TCEAL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TCEAL1 was changed from Other to None
DDG2P v6.374 TBXAS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TBXAS1 was changed from Other to None
DDG2P v6.374 TAF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAF2 was changed from Other to None
DDG2P v6.373 TAF13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAF13 was changed from Other to None
DDG2P v6.373 TACR3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TACR3 was changed from Other to None
DDG2P v6.372 TAC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAC3 was changed from Other to None
DDG2P v6.371 TAB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAB2 was changed from Other to None
DDG2P v6.370 SYT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SYT1 was changed from Other to None
DDG2P v6.370 SUFU Achchuthan Shanmugasundram Mode of pathogenicity for gene: SUFU was changed from Other - please provide details in the comments to None
DDG2P v6.369 STT3A Achchuthan Shanmugasundram Mode of pathogenicity for gene: STT3A was changed from Other to None
DDG2P v6.368 SUPT16H Achchuthan Shanmugasundram Mode of pathogenicity for gene: SUPT16H was changed from Other to None
DDG2P v6.367 ST3GAL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ST3GAL3 was changed from Other to None
DDG2P v6.367 ST14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ST14 was changed from Other to None
DDG2P v6.366 SRPX2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SRPX2 was changed from Other to None
DDG2P v6.366 SRP54 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SRP54 was changed from Other to None
DDG2P v6.365 SRCAP Achchuthan Shanmugasundram Mode of pathogenicity for gene: SRCAP was changed from Other - please provide details in the comments to None
DDG2P v6.365 SPTLC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPTLC2 was changed from Other to None
DDG2P v6.364 SPRY1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPRY1 was changed from Other to None
DDG2P v6.363 SPRTN Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPRTN was changed from Other to None
DDG2P v6.362 SPECC1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPECC1L was changed from Other to None
DDG2P v6.362 SPAST Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPAST was changed from Other to None
DDG2P v6.361 SPARC Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPARC was changed from Other to None
DDG2P v6.361 SOX4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX4 was changed from Other to None
DDG2P v6.360 SOX17 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX17 was changed from Other to None
DDG2P v6.359 SOX11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX11 was changed from Other - please provide details in the comments to None
DDG2P v6.358 SOS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOS2 was changed from Other to None
DDG2P v6.357 SNRPE Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNRPE was changed from Other to None
DDG2P v6.356 SNIP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNIP1 was changed from Other to None
DDG2P v6.355 SNAP25 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNAP25 was changed from Other - please provide details in the comments to None
DDG2P v6.355 SMO Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMO was changed from Other - please provide details in the comments to None
DDG2P v6.354 SMCHD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMCHD1 was changed from Other to None
DDG2P v6.353 SMC5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMC5 was changed from Other to None
DDG2P v6.353 SMC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMC3 was changed from Other to None
DDG2P v6.352 SMARCE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCE1 was changed from Other to None
DDG2P v6.352 SMARCD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCD1 was changed from Other to None
DDG2P v6.351 SMARCA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCA2 was changed from Other to None
DDG2P v6.351 SLF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLF2 was changed from Other to None
DDG2P v6.350 SLC9A7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC9A7 was changed from Other to None
DDG2P v6.349 SLC5A7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC5A7 was changed from Other to None
DDG2P v6.349 SLC4A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC4A1 was changed from Other to None
DDG2P v6.348 SLC6A17 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC6A17 was changed from Other to None
DDG2P v6.347 SLC45A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC45A1 was changed from Other to None
DDG2P v6.346 SLC39A8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC39A8 was changed from Other to None
DDG2P v6.346 SLC35B2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC35B2 was changed from Other to None
DDG2P v6.345 SLC32A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC32A1 was changed from Other to None
DDG2P v6.345 SLC31A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC31A1 was changed from Other to None
DDG2P v6.344 SLC30A7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC30A7 was changed from Other to None
DDG2P v6.343 SLC25A4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A4 was changed from Other to None
DDG2P v6.343 SLC25A24 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A24 was changed from Other to None
DDG2P v6.342 SLC25A22 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A22 was changed from Other to None
DDG2P v6.342 SLC25A19 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A19 was changed from Other to None
DDG2P v6.341 SLC1A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC1A2 was changed from Other to None
DDG2P v6.340 SLC12A9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC12A9 was changed from Other to None
DDG2P v6.340 SLC12A5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC12A5 was changed from Other to None
DDG2P v6.339 SKI Achchuthan Shanmugasundram Mode of pathogenicity for gene: SKI was changed from Other to None
DDG2P v6.338 SIX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX5 was changed from None to None
DDG2P v6.337 SIX6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX6 was changed from Other to None
DDG2P v6.337 SIX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX5 was changed from Other to None
DDG2P v6.337 SIAH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIAH1 was changed from Other to None
DDG2P v6.336 SHMT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SHMT2 was changed from Other to None
DDG2P v6.336 SEMA6B Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEMA6B was changed from Other to None
DDG2P v6.335 SEC61A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEC61A1 was changed from Other to None
DDG2P v6.335 SEC23A Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEC23A was changed from Other to None
DDG2P v6.334 SDHAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SDHAF1 was changed from Other to None
DDG2P v6.333 SDHA Achchuthan Shanmugasundram Mode of pathogenicity for gene: SDHA was changed from Other to None
DDG2P v6.332 SCN4A Achchuthan Shanmugasundram Mode of pathogenicity for gene: SCN4A was changed from Other to None
DDG2P v6.331 SCN3A Achchuthan Shanmugasundram Mode of pathogenicity for gene: SCN3A was changed from Other to None
DDG2P v6.330 SC5D Achchuthan Shanmugasundram Mode of pathogenicity for gene: SC5D was changed from Other to None
DDG2P v6.330 SASS6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SASS6 was changed from Other to None
DDG2P v6.329 SARS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS2 was changed from Other to None
DDG2P v6.328 SARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS was changed from Other to None
DDG2P v6.327 SAMD9L Achchuthan Shanmugasundram Mode of pathogenicity for gene: SAMD9L was changed from Other to None
DDG2P v6.327 RYR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RYR2 was changed from Other to None
DDG2P v6.326 RUBCN Achchuthan Shanmugasundram Mode of pathogenicity for gene: RUBCN was changed from Other to None
DDG2P v6.326 RTTN Achchuthan Shanmugasundram Mode of pathogenicity for gene: RTTN was changed from Other to None
DDG2P v6.325 RRM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RRM1 was changed from Other to None
DDG2P v6.325 RPS23 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPS23 was changed from Other to None
DDG2P v6.324 RPL13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPL13 was changed from Other to None
DDG2P v6.324 RPL10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPL10 was changed from Other to None
DDG2P v6.323 RNU4ATAC Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU4ATAC was changed from Other to None
DDG2P v6.323 RNU4-2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU4-2 was changed from Other to None
DDG2P v6.322 RNU12 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU12 was changed from Other to None
DDG2P v6.321 RNF125 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNF125 was changed from Other to None
DDG2P v6.321 RMND1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RMND1 was changed from Other to None
DDG2P v6.320 RLIM Achchuthan Shanmugasundram Mode of pathogenicity for gene: RLIM was changed from Other to None
DDG2P v6.320 DDX58 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX58 was changed from Other to None
DDG2P v6.319 RHOBTB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RHOBTB2 was changed from Other to None
DDG2P v6.319 REST Achchuthan Shanmugasundram Mode of pathogenicity for gene: REST was changed from Other to None
DDG2P v6.318 RBPJ Achchuthan Shanmugasundram Mode of pathogenicity for gene: RBPJ was changed from Other to None
DDG2P v6.318 RBM28 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RBM28 was changed from Other to None
DDG2P v6.317 RAP1B Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAP1B was changed from Other to None
DDG2P v6.317 RANBP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RANBP2 was changed from Other to None
DDG2P v6.316 RALGDS Achchuthan Shanmugasundram Mode of pathogenicity for gene: RALGDS was changed from Other to None
DDG2P v6.316 RALA Achchuthan Shanmugasundram Mode of pathogenicity for gene: RALA was changed from Other to None
DDG2P v6.316 RAD51C Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAD51C was changed from Other to None
DDG2P v6.315 RAC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAC3 was changed from Other to None
DDG2P v6.315 RAC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAC1 was changed from Other to None
DDG2P v6.314 RABL6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RABL6 was changed from Other to None
DDG2P v6.314 RAB34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB34 was changed from Other to None
DDG2P v6.313 RAB14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB14 was changed from Other to None
DDG2P v6.312 RAB11B Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB11B was changed from Other to None
DDG2P v6.311 RAB11A Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB11A was changed from Other to None
DDG2P v6.311 QARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: QARS was changed from Other to None
DDG2P v6.310 PYCR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PYCR2 was changed from Other to None
DDG2P v6.310 PTPN11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PTPN11 was changed from Other to None
DDG2P v6.309 PTDSS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PTDSS1 was changed from Other to None
DDG2P v6.308 PSMC5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC5 was changed from Other to None
DDG2P v6.308 PSMC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC3 was changed from Other to None
DDG2P v6.307 PSMC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC1 was changed from Other to None
DDG2P v6.307 PSMB8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMB8 was changed from Other to None
DDG2P v6.306 PRRX1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRRX1 was changed from Other to None
DDG2P v6.305 PRMT9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRMT9 was changed from Other to None
DDG2P v6.305 PRKD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKD1 was changed from Other to None
DDG2P v6.304 PRKAR1B Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKAR1B was changed from Other to None
DDG2P v6.304 PRKACB Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKACB was changed from Other to None
DDG2P v6.303 PRKACA Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKACA was changed from Other to None
DDG2P v6.303 PRDM6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRDM6 was changed from Other to None
DDG2P v6.302 PRDM15 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRDM15 was changed from Other to None
DDG2P v6.301 PPP3CA Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPP3CA was changed from Other to None
DDG2P v6.301 PPP1CB Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPP1CB was changed from Other to None
DDG2P v6.300 PPFIA3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPFIA3 was changed from Other to None
DDG2P v6.299 PPA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPA2 was changed from Other to None
DDG2P v6.299 POU3F3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: POU3F3 was changed from Other to None
DDG2P v6.298 POT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: POT1 was changed from Other to None
DDG2P v6.298 POMP Achchuthan Shanmugasundram Mode of pathogenicity for gene: POMP was changed from Other to None
DDG2P v6.297 POLR2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLR2A was changed from Other to None
DDG2P v6.296 POLG Achchuthan Shanmugasundram Publications for gene: POLG were set to
DDG2P v6.295 POLG Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLG was changed from Other to None
DDG2P v6.294 POLD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLD1 was changed from Other to None
DDG2P v6.293 PNPLA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PNPLA1 was changed from Other to None
DDG2P v6.292 PMPCB Achchuthan Shanmugasundram Mode of pathogenicity for gene: PMPCB was changed from Other to None
DDG2P v6.291 PLXND1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PLXND1 was changed from Other - please provide details in the comments to None
DDG2P v6.291 PLCH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PLCH1 was changed from Other to None
DDG2P v6.290 PLCB4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PLCB4 was changed from Other to None
DDG2P v6.290 PIP5K1C Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIP5K1C was changed from Other to None
DDG2P v6.289 PIGY Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGY was changed from Other to None
DDG2P v6.288 PIGW Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGW was changed from Other to None
DDG2P v6.288 PIGV Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGV was changed from Other to None
DDG2P v6.287 PIGU Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGU was changed from Other to None
DDG2P v6.287 PIGT Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGT was changed from Other to None
DDG2P v6.286 PIGN Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGN was changed from Other to None
DDG2P v6.286 PIGM Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGM was changed from Other to None
DDG2P v6.285 PHF5A Achchuthan Shanmugasundram Mode of pathogenicity for gene: PHF5A was changed from Other to None
DDG2P v6.285 PHC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PHC1 was changed from Other to None
DDG2P v6.284 PGAP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PGAP2 was changed from Other to None
DDG2P v6.284 PECR Achchuthan Shanmugasundram Mode of pathogenicity for gene: PECR was changed from Other to None
DDG2P v6.283 PDSS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PDSS1 was changed from Other to None
DDG2P v6.282 PDE10A Achchuthan Shanmugasundram Mode of pathogenicity for gene: PDE10A was changed from Other to None
DDG2P v6.282 PARP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PARP1 was changed from Other to None
DDG2P v6.281 PACS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PACS2 was changed from Other to None
DDG2P v6.281 PABPC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PABPC1 was changed from Other to None
DDG2P v6.280 P4HB Achchuthan Shanmugasundram Mode of pathogenicity for gene: P4HB was changed from Other to None
DDG2P v6.279 OTUD5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: OTUD5 was changed from Other to None
DDG2P v6.279 OSGEP Achchuthan Shanmugasundram Mode of pathogenicity for gene: OSGEP was changed from Other to None
DDG2P v6.278 OGDH Achchuthan Shanmugasundram Mode of pathogenicity for gene: OGDH was changed from Other to None
DDG2P v6.278 NUP62 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NUP62 was changed from Other to None
DDG2P v6.277 NUP54 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NUP54 was changed from Other to None
DDG2P v6.276 NTRK2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NTRK2 was changed from Other to None
DDG2P v6.275 NSUN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NSUN2 was changed from Other to None
DDG2P v6.275 NSMCE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NSMCE3 was changed from Other to None
DDG2P v6.274 NR1I3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NR1I3 was changed from Other to None
DDG2P v6.274 NPM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NPM1 was changed from Other to None
DDG2P v6.273 NOVA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NOVA2 was changed from Other to None
DDG2P v6.272 NOP10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NOP10 was changed from Other to None
DDG2P v6.272 NKAP Achchuthan Shanmugasundram Mode of pathogenicity for gene: NKAP was changed from Other to None
DDG2P v6.271 NHP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NHP2 was changed from Other to None
DDG2P v6.271 NFU1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NFU1 was changed from Other to None
DDG2P v6.270 NDUFS8 Achchuthan Shanmugasundram Publications for gene: NDUFS8 were set to
DDG2P v6.270 NEDD4L Achchuthan Shanmugasundram Mode of pathogenicity for gene: NEDD4L was changed from Other to None
DDG2P v6.269 NDUFV2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFV2 was changed from Other to None
DDG2P v6.269 NDUFV1 Achchuthan Shanmugasundram Publications for gene: NDUFV1 were set to
DDG2P v6.268 NDUFV1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFV1 was changed from Other to None
DDG2P v6.268 NDUFS8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFS8 was changed from Other to None
DDG2P v6.267 NDUFA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFA9 was changed from Other to None
Intellectual disability v9.276 BORCS5 Ida Ertmanska Classified gene: BORCS5 as Amber List (moderate evidence)
Intellectual disability v9.276 BORCS5 Ida Ertmanska Added comment: Comment on list classification: Gene will not be tagged for promotion to Green until PMID: 40385417 pre-print is published.
Intellectual disability v9.276 BORCS5 Ida Ertmanska Gene: borcs5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.119 BORCS5 Ida Ertmanska Classified gene: BORCS5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.119 BORCS5 Ida Ertmanska Added comment: Comment on list classification: Gene will not be tagged for promotion to Green until PMID: 40385417 pre-print is published.
Early onset or syndromic epilepsy v8.119 BORCS5 Ida Ertmanska Gene: borcs5 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v8.30 BORCS5 Ida Ertmanska Classified gene: BORCS5 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v8.30 BORCS5 Ida Ertmanska Added comment: Comment on list classification: Gene will not be tagged for promotion to Green until PMID: 40385417 pre-print is published.
Childhood onset hereditary spastic paraplegia v8.30 BORCS5 Ida Ertmanska Gene: borcs5 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v5.48 BORCS5 Ida Ertmanska Classified gene: BORCS5 as Amber List (moderate evidence)
Optic neuropathy v5.48 BORCS5 Ida Ertmanska Added comment: Comment on list classification: Gene will not be tagged for promotion to Green until PMID: 40385417 pre-print is published.
Optic neuropathy v5.48 BORCS5 Ida Ertmanska Gene: borcs5 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v9.23 BORCS5 Ida Ertmanska Classified gene: BORCS5 as Amber List (moderate evidence)
Arthrogryposis v9.23 BORCS5 Ida Ertmanska Added comment: Comment on list classification: Gene will not be tagged for promotion to Green until PMID: 40385417 pre-print is published.
Arthrogryposis v9.23 BORCS5 Ida Ertmanska Gene: borcs5 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v5.47 BORCS5 Ida Ertmanska gene: BORCS5 was added
gene: BORCS5 was added to Optic neuropathy. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 27435318; 40385417; 40621786
Phenotypes for gene: BORCS5 were set to arthrogryposis multiplex congenita, MONDO:0015168; neurodevelopmental disorder, MONDO:0700092
Review for gene: BORCS5 was set to GREEN
Added comment: PMID: 40621786 Fisher et al., 2025
Report of 2 fetal cases in a consanguineous Pakistani family. Exome seq revealed a homozygous nonsense variant c.283C>T, p.(Arg95Ter) in BORCS5 (NM_058169.4). Individuals showed neuroaxonal dystrophy with osteopetrosis.

PMID: 40385417 Mencacci et al., 2025 - pre-print
Report of 12 individuals from 7 unrelated families with biallelic BORCS5 variants (NM_058169.4): two missense variants (c.284G>A, p.R95Q; c.296A>C, p.H99P) and four LoF alleles (c.203–1G>T, p.?; c.316delG, p.A106Pfs*20; c.382_383delAG, p.L128Vfs*86; c.417C>G, p.Y139*).
Table 1 = phenotypic spectrum of 6 individuals from families 1-4: profound ID (6/6), severe spasticity (6/6), seizures (6/6), hyperreflexia (6/6), Parkinsonism/dystonia (3/6), limb contractures (5/6), optic atrophy (5/6), abnormal brain MRI including cerebral atrophy and/or corpus callosum agenesis (5/6), microcephaly (6/6 - severity not stated), muscle atrophy (5/6). Infantile onset.
Neuroimaging in 5 cases showed cerebral atrophy, white matter loss, hypomyelination, small T2-hypointense thalami, thin brainstem, and optic nerve atrophy.

PMID: 27435318 Charng et al., 2016
Patient BAB6775 homozygous for NM_058169.4 BORCS5: c.203-1G>T, with DD, microcephaly, seizures, cortical malformations, polymicrogyria, agenesis of corpus callosum. Also reported with more details in PMID:40385417 (do not count).

Additional functional evidence: Zebrafish borcs5 knockout leads to neurodevelopmental defects:microcephaly, ventriculomegaly, movement disorders and epilepsy.

BORCS5 is not yet associated with a disease in OMIM (accessed 20th Feb 2026).
Sources: Literature
Childhood onset hereditary spastic paraplegia v8.29 BORCS5 Ida Ertmanska gene: BORCS5 was added
gene: BORCS5 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 27435318; 40385417; 40621786
Phenotypes for gene: BORCS5 were set to arthrogryposis multiplex congenita, MONDO:0015168; neurodevelopmental disorder, MONDO:0700092
Review for gene: BORCS5 was set to GREEN
Added comment: PMID: 40621786 Fisher et al., 2025
Report of 2 fetal cases in a consanguineous Pakistani family. Exome seq revealed a homozygous nonsense variant c.283C>T, p.(Arg95Ter) in BORCS5 (NM_058169.4). Individuals showed neuroaxonal dystrophy with osteopetrosis.

PMID: 40385417 Mencacci et al., 2025 - pre-print
Report of 12 individuals from 7 unrelated families with biallelic BORCS5 variants (NM_058169.4): two missense variants (c.284G>A, p.R95Q; c.296A>C, p.H99P) and four LoF alleles (c.203–1G>T, p.?; c.316delG, p.A106Pfs*20; c.382_383delAG, p.L128Vfs*86; c.417C>G, p.Y139*).
Table 1 = phenotypic spectrum of 6 individuals from families 1-4: profound ID (6/6), severe spasticity (6/6), seizures (6/6), hyperreflexia (6/6), Parkinsonism/dystonia (3/6), limb contractures (5/6), optic atrophy (5/6), abnormal brain MRI including cerebral atrophy and/or corpus callosum agenesis (5/6), microcephaly (6/6 - severity not stated), muscle atrophy (5/6). Infantile onset.
Neuroimaging in 5 cases showed cerebral atrophy, white matter loss, hypomyelination, small T2-hypointense thalami, thin brainstem, and optic nerve atrophy.

PMID: 27435318 Charng et al., 2016
Patient BAB6775 homozygous for NM_058169.4 BORCS5: c.203-1G>T, with DD, microcephaly, seizures, cortical malformations, polymicrogyria, agenesis of corpus callosum. Also reported with more details in PMID:40385417 (do not count).

Additional functional evidence: Zebrafish borcs5 knockout leads to neurodevelopmental defects:microcephaly, ventriculomegaly, movement disorders and epilepsy.

BORCS5 is not yet associated with a disease in OMIM (accessed 20th Feb 2026).
Sources: Literature
Early onset or syndromic epilepsy v8.118 BORCS5 Ida Ertmanska gene: BORCS5 was added
gene: BORCS5 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 27435318; 40385417; 40621786
Phenotypes for gene: BORCS5 were set to arthrogryposis multiplex congenita, MONDO:0015168; neurodevelopmental disorder, MONDO:0700092
Review for gene: BORCS5 was set to GREEN
Added comment: PMID: 40621786 Fisher et al., 2025
Report of 2 fetal cases in a consanguineous Pakistani family. Exome seq revealed a homozygous nonsense variant c.283C>T, p.(Arg95Ter) in BORCS5 (NM_058169.4). Individuals showed neuroaxonal dystrophy with osteopetrosis.

PMID: 40385417 Mencacci et al., 2025 - pre-print
Report of 12 individuals from 7 unrelated families with biallelic BORCS5 variants (NM_058169.4): two missense variants (c.284G>A, p.R95Q; c.296A>C, p.H99P) and four LoF alleles (c.203–1G>T, p.?; c.316delG, p.A106Pfs*20; c.382_383delAG, p.L128Vfs*86; c.417C>G, p.Y139*).
Table 1 = phenotypic spectrum of 6 individuals from families 1-4: profound ID (6/6), severe spasticity (6/6), seizures (6/6), hyperreflexia (6/6), Parkinsonism/dystonia (3/6), limb contractures (5/6), optic atrophy (5/6), abnormal brain MRI including cerebral atrophy and/or corpus callosum agenesis (5/6), microcephaly (6/6 - severity not stated), muscle atrophy (5/6). Infantile onset.
Neuroimaging in 5 cases showed cerebral atrophy, white matter loss, hypomyelination, small T2-hypointense thalami, thin brainstem, and optic nerve atrophy.

PMID: 27435318 Charng et al., 2016
Patient BAB6775 homozygous for NM_058169.4 BORCS5: c.203-1G>T, with DD, microcephaly, seizures, cortical malformations, polymicrogyria, agenesis of corpus callosum. Also reported with more details in PMID:40385417 (do not count).

Additional functional evidence: Zebrafish borcs5 knockout leads to neurodevelopmental defects:microcephaly, ventriculomegaly, movement disorders and epilepsy.

BORCS5 is not yet associated with a disease in OMIM (accessed 20th Feb 2026).
Sources: Literature
Intellectual disability v9.275 BORCS5 Ida Ertmanska gene: BORCS5 was added
gene: BORCS5 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 27435318; 40385417; 40621786
Phenotypes for gene: BORCS5 were set to arthrogryposis multiplex congenita, MONDO:0015168; neurodevelopmental disorder, MONDO:0700092
Review for gene: BORCS5 was set to GREEN
Added comment: PMID: 40621786 Fisher et al., 2025
Report of 2 fetal cases in a consanguineous Pakistani family. Exome seq revealed a homozygous nonsense variant c.283C>T, p.(Arg95Ter) in BORCS5 (NM_058169.4). Individuals showed neuroaxonal dystrophy with osteopetrosis.

PMID: 40385417 Mencacci et al., 2025 - pre-print
Report of 12 individuals from 7 unrelated families with biallelic BORCS5 variants (NM_058169.4): two missense variants (c.284G>A, p.R95Q; c.296A>C, p.H99P) and four LoF alleles (c.203–1G>T, p.?; c.316delG, p.A106Pfs*20; c.382_383delAG, p.L128Vfs*86; c.417C>G, p.Y139*).
Table 1 = phenotypic spectrum of 6 individuals from families 1-4: profound ID (6/6), severe spasticity (6/6), seizures (6/6), hyperreflexia (6/6), Parkinsonism/dystonia (3/6), limb contractures (5/6), optic atrophy (5/6), abnormal brain MRI including cerebral atrophy and/or corpus callosum agenesis (5/6), microcephaly (6/6 - severity not stated), muscle atrophy (5/6). Infantile onset.
Neuroimaging in 5 cases showed cerebral atrophy, white matter loss, hypomyelination, small T2-hypointense thalami, thin brainstem, and optic nerve atrophy.

PMID: 27435318 Charng et al., 2016
Patient BAB6775 homozygous for NM_058169.4 BORCS5: c.203-1G>T, with DD, microcephaly, seizures, cortical malformations, polymicrogyria, agenesis of corpus callosum. Also reported with more details in PMID:40385417 (do not count).

Additional functional evidence: Zebrafish borcs5 knockout leads to neurodevelopmental defects:microcephaly, ventriculomegaly, movement disorders and epilepsy.

BORCS5 is not yet associated with a disease in OMIM (accessed 20th Feb 2026).
Sources: Literature
Arthrogryposis v9.22 BORCS5 Ida Ertmanska gene: BORCS5 was added
gene: BORCS5 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 27435318; 40385417; 40621786
Phenotypes for gene: BORCS5 were set to arthrogryposis multiplex congenita, MONDO:0015168; neurodevelopmental disorder, MONDO:0700092
Review for gene: BORCS5 was set to GREEN
Added comment: PMID: 40621786 Fisher et al., 2025
Report of 2 fetal cases in a consanguineous Pakistani family. Exome seq revealed a homozygous nonsense variant c.283C>T, p.(Arg95Ter) in BORCS5 (NM_058169.4). Individuals showed neuroaxonal dystrophy with osteopetrosis.

PMID: 40385417 Mencacci et al., 2025 - pre-print
Report of 12 individuals from 7 unrelated families with biallelic BORCS5 variants (NM_058169.4): two missense variants (c.284G>A, p.R95Q; c.296A>C, p.H99P) and four LoF alleles (c.203–1G>T, p.?; c.316delG, p.A106Pfs*20; c.382_383delAG, p.L128Vfs*86; c.417C>G, p.Y139*).
Table 1 = phenotypic spectrum of 6 individuals from families 1-4: profound ID (6/6), severe spasticity (6/6), seizures (6/6), hyperreflexia (6/6), Parkinsonism/dystonia (3/6), limb contractures (5/6), optic atrophy (5/6), abnormal brain MRI including cerebral atrophy and/or corpus callosum agenesis (5/6), microcephaly (6/6 - severity not stated), muscle atrophy (5/6). Infantile onset.
Neuroimaging in 5 cases showed cerebral atrophy, white matter loss, hypomyelination, small T2-hypointense thalami, thin brainstem, and optic nerve atrophy.

PMID: 27435318 Charng et al., 2016
Patient BAB6775 homozygous for NM_058169.4 BORCS5: c.203-1G>T, with DD, microcephaly, seizures, cortical malformations, polymicrogyria, agenesis of corpus callosum. Also reported with more details in PMID:40385417 (do not count).

Additional functional evidence: Zebrafish borcs5 knockout leads to neurodevelopmental defects:microcephaly, ventriculomegaly, movement disorders and epilepsy.

BORCS5 is not yet associated with a disease in OMIM (accessed 20th Feb 2026).
Sources: Literature
Early onset or syndromic epilepsy v8.117 CCT8 Ida Ertmanska Classified gene: CCT8 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.117 CCT8 Ida Ertmanska Gene: cct8 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.274 CCT8 Ida Ertmanska Classified gene: CCT8 as Amber List (moderate evidence)
Intellectual disability v9.274 CCT8 Ida Ertmanska Gene: cct8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.116 CCT8 Ida Ertmanska gene: CCT8 was added
gene: CCT8 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT8 were set to 39480921
Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities
Review for gene: CCT8 was set to AMBER
Added comment: PMID: 39480921 Kraft et al., 2024
Report of 2 individuals (20yo male and 79yo male) with heterozygous CCT7 variants: c.925_929del p.(Asn309Hisfs*16) - de novo & c.1166_1169delAAAG, p.(Glu389Glyfs*3) - inheritance not known. Patients presented with DD/ID (2/2), cerebral/pyramidal signs (1), seizures (2/2) and MRI abnormalities: Polymicrogyria (2/2).

CCT8 is not yet associated with a disease entity in OMIM (accessed 20th Feb 2026).
Sources: Literature
Intellectual disability v9.273 CCT8 Ida Ertmanska gene: CCT8 was added
gene: CCT8 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT8 were set to 39480921
Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities
Review for gene: CCT8 was set to AMBER
Added comment: PMID: 39480921 Kraft et al., 2024
Report of 2 individuals (20yo male and 79yo male) with heterozygous CCT7 variants: c.925_929del p.(Asn309Hisfs*16) - de novo & c.1166_1169delAAAG, p.(Glu389Glyfs*3) - inheritance not known. Patients presented with DD/ID (2/2), cerebral/pyramidal signs (1), seizures (2/2) and MRI abnormalities: Polymicrogyria (2/2).

CCT8 is not yet associated with a disease entity in OMIM (accessed 20th Feb 2026).
Sources: Literature
Intellectual disability v9.272 CCT7 Ida Ertmanska gene: CCT7 was added
gene: CCT7 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CCT7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT7 were set to 39480921
Phenotypes for gene: CCT7 were set to CCT7-related neurodevelopmental disorder with brain abnormalities
Review for gene: CCT7 was set to RED
Added comment: PMID: 39480921 Kraft et al., 2024
Report of 1 individual (5yo male) with a de novo heterozygous CCT7 variant: c.1135G>A, p.(Glu379Lys), presenting with DD/ID, cerebral/pyramidal signs, and MRI abnormalities:Inferior vermis hypoplasia, corpus callosum hypoplasia.

CCT7 is not yet associated with a disease entity in OMIM (accessed 20th Feb 2026).
Sources: Literature
DDG2P v6.266 NDUFA10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFA10 was changed from Other to None
DDG2P v6.265 NDST1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDST1 was changed from Other to None
DDG2P v6.264 NCDN Achchuthan Shanmugasundram Mode of pathogenicity for gene: NCDN was changed from Other to None
DDG2P v6.263 NCAPG2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NCAPG2 was changed from Other to None
DDG2P v6.262 NAE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NAE1 was changed from Other to None
DDG2P v6.261 NAA20 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NAA20 was changed from Other to None
DDG2P v6.260 MYLPF Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYLPF was changed from Other to None
DDG2P v6.260 MYH9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH9 was changed from Other to None
DDG2P v6.259 MYH6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH6 was changed from Other - please provide details in the comments to None
DDG2P v6.259 MYH3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH3 was changed from Other - please provide details in the comments to None
DDG2P v6.258 MTSS1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: MTSS1L was changed from Other to None
DDG2P v6.257 MTOR Achchuthan Shanmugasundram Mode of pathogenicity for gene: MTOR was changed from Other to None
DDG2P v6.257 MT-TL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MT-TL1 was changed from Other to None
DDG2P v6.256 MSI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MSI1 was changed from Other to None
DDG2P v6.255 MRPS22 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MRPS22 was changed from Other to None
DDG2P v6.254 MRPS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MRPS2 was changed from Other to None
DDG2P v6.253 MPZ Achchuthan Shanmugasundram Mode of pathogenicity for gene: MPZ was changed from Other to None
DDG2P v6.253 MPC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MPC2 was changed from Other to None
DDG2P v6.252 MORC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MORC2 was changed from Other to None
DDG2P v6.252 MOGS Achchuthan Shanmugasundram Mode of pathogenicity for gene: MOGS was changed from Other to None
DDG2P v6.251 MMP14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMP14 was changed from Other to None
DDG2P v6.250 MMP13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMP13 was changed from Other to None
DDG2P v6.250 MMGT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMGT1 was changed from Other to None
DDG2P v6.249 MFSD2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: MFSD2A was changed from Other to None
DDG2P v6.249 MFN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MFN2 was changed from Other to None
DDG2P v6.248 MED25 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED25 was changed from Other to None
DDG2P v6.247 MED23 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED23 was changed from Other to None
DDG2P v6.247 MED17 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED17 was changed from Other to None
DDG2P v6.246 MED12 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED12 was changed from Other - please provide details in the comments to None
DDG2P v6.246 MED11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED11 was changed from Other to None
DDG2P v6.245 MAP3K7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAP3K7 was changed from Other to None
DDG2P v6.244 MATN3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MATN3 was changed from Other to None
DDG2P v6.243 MAST1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAST1 was changed from Other to None
DDG2P v6.243 MAPRE2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAPRE2 was changed from Other to None
DDG2P v6.242 MAP4K4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAP4K4 was changed from Other to None
Ataxia and cerebellar anomalies - narrow panel v8.60 CCT5 Ida Ertmanska gene: CCT5 was added
gene: CCT5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Mode of inheritance for gene: CCT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT5 were set to 16333315; 39480921
Phenotypes for gene: CCT5 were set to ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840
Added comment: PMID: 39480921 Kraft et al., 2024
1 individual (5yo male) reported with a de novo heterozygous CCT5 variant c.527A>G, p.(Lys176Arg). Presented with severe ID/DD, pyramidal/cerebellar signs, visual impairment, and microcephaly (−7.86 z), polymicrogyria, and pontocerebellar hypoplasia.

PMID: 16333315 Ahmed Bouhouche et al., 2006 - listed in OMIM
By genomewide analysis of a consanguineous Moroccan family with sensory neuropathy and spastic paraplegia, Bouhouche et al. (2006) identified a candidate disease locus within a 25-cM region on chromosome 5p15.31-p14.1 between markers D5S2054 and D5S648 - CCT5 was one of 3 candidate genes in the region.

CCT5 is putatively associated with ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840 (OMIM accessed 20th Feb 2026).
Sources: Literature
Intellectual disability v9.271 CCT5 Ida Ertmanska Publications for gene: CCT5 were set to 16399879; 25124038
Intellectual disability v9.270 CCT5 Ida Ertmanska reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16333315, 39480921; Phenotypes: ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v5.46 CCT3 Ida Ertmanska Classified gene: CCT3 as Amber List (moderate evidence)
Optic neuropathy v5.46 CCT3 Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals reported with heterozygous CCT3 variants and visual impairment stemming from optic nerve atrophy and hypomyelination - tagged for promotion to Green at the next update.
Optic neuropathy v5.46 CCT3 Ida Ertmanska Gene: cct3 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v5.45 CCT3 Ida Ertmanska gene: CCT3 was added
gene: CCT3 was added to Optic neuropathy. Sources: Literature
Q1_26_promote_green tags were added to gene: CCT3.
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034; neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125
Review for gene: CCT3 was set to GREEN
Added comment: PMID: 39480921 Kraft et al., 2024
4 individuals aged 2-8 yo, reported with heterozygous CCT3 variants (frameshift, missense, stop gain - all 4 confirmed de novo). Patients presented with ID, seizures, visual impairment and brain malformations. Phenotype spectrum: DD/ID (4/4, severe), seizures (2/4), visual impairment (3/4), pyramidal/cerebellar signs (4/4), brain MRI abnormalities (3/3). MRI findings included cerebellar atrophy, hypomyelination of white matter, hypoplasia of corpus callosum, and atrophy of optic tract, chiasm and optic nerves.

CCT3 is associated with Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 (OMIM accessed 20th Feb 2026).
Sources: Literature
Intellectual disability v9.270 CCT3 Ida Ertmanska Classified gene: CCT3 as Amber List (moderate evidence)
Intellectual disability v9.270 CCT3 Ida Ertmanska Added comment: Comment on list classification: There are 4 unrelated individuals reported with severe ID/DD and heterozygous CCT3 variants - tagged for promotion to Green at the next update.
Intellectual disability v9.270 CCT3 Ida Ertmanska Gene: cct3 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v7.28 CCT3 Ida Ertmanska Classified gene: CCT3 as Amber List (moderate evidence)
Malformations of cortical development v7.28 CCT3 Ida Ertmanska Added comment: Comment on list classification: There are 4 unrelated individuals reported with malformations of cortical development and heterozygous CCT3 variants - tagged for promotion to Green at the next update.
Malformations of cortical development v7.28 CCT3 Ida Ertmanska Gene: cct3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.269 CCT3 Ida Ertmanska gene: CCT3 was added
gene: CCT3 was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: CCT3.
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034; neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125
Review for gene: CCT3 was set to GREEN
Added comment: PMID: 39480921 Kraft et al., 2024
4 individuals aged 2-8 yo, reported with heterozygous CCT3 variants (frameshift, missense, stop gain - all 4 confirmed de novo). Patients presented with ID, seizures, visual impairment and brain malformations. Phenotype spectrum: DD/ID (4/4, severe), seizures (2/4), visual impairment (3/4), pyramidal/cerebellar signs (4/4), brain MRI abnormalities (3/3). MRI findings included cerebellar atrophy, hypomyelination of white matter, hypoplasia of corpus callosum, and atrophy of optic tract, chiasm and optic nerves.

CCT3 is associated with Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 (OMIM accessed 20th Feb 2026).
Sources: Literature
Malformations of cortical development v7.27 CCT3 Ida Ertmanska gene: CCT3 was added
gene: CCT3 was added to Malformations of cortical development. Sources: Literature
Q1_26_promote_green tags were added to gene: CCT3.
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034; neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125
Review for gene: CCT3 was set to GREEN
Added comment: PMID: 39480921 Kraft et al., 2024
4 individuals aged 2-8 yo, reported with heterozygous CCT3 variants (frameshift, missense, stop gain - all 4 confirmed de novo). Patients presented with ID, seizures, visual impairment and brain malformations. Phenotype spectrum: DD/ID (4/4, severe), seizures (2/4), visual impairment (3/4), pyramidal/cerebellar signs (4/4), brain MRI abnormalities (3/3). MRI findings included cerebellar atrophy, hypomyelination of white matter, hypoplasia of corpus callosum, and atrophy of optic tract, chiasm and optic nerves.

CCT3 is associated with Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 (OMIM accessed 20th Feb 2026).
Sources: Literature
Malformations of cortical development v7.26 TCP1 Ida Ertmanska Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021; intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124
Malformations of cortical development v7.25 TCP1 Ida Ertmanska Classified gene: TCP1 as Amber List (moderate evidence)
Malformations of cortical development v7.25 TCP1 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported with malformations of cortical development and heterozygous TCP1 variants - tagged for promotion to Green at the next update.
Malformations of cortical development v7.25 TCP1 Ida Ertmanska Gene: tcp1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.115 TCP1 Ida Ertmanska Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021; intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124
Early onset or syndromic epilepsy v8.114 TCP1 Ida Ertmanska Classified gene: TCP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.114 TCP1 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported with syndromic epilepsy and heterozygous TCP1 variants - tagged for promotion to Green at the next update.
Early onset or syndromic epilepsy v8.114 TCP1 Ida Ertmanska Gene: tcp1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.268 TCP1 Ida Ertmanska Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021; intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124
Intellectual disability v9.267 TCP1 Ida Ertmanska Classified gene: TCP1 as Amber List (moderate evidence)
Intellectual disability v9.267 TCP1 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported with syndromic intellectual disability and heterozygous TCP1 variants - tagged for promotion to Green at the next update.
Intellectual disability v9.267 TCP1 Ida Ertmanska Gene: tcp1 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v7.24 TCP1 Ida Ertmanska gene: TCP1 was added
gene: TCP1 was added to Malformations of cortical development. Sources: Literature
Q1_26_promote_green tags were added to gene: TCP1.
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
Review for gene: TCP1 was set to GREEN
Added comment: PMID: 39480921 Kraft et al., 2024
8 individuals reported with heterozygous TCP1 (CCT1) variants (frameshift, missense, stop gain - 5 confirmed de novo). Patients presented with ID, seizures, and brain malformations. Phenotype spectrum: DD/ID of variable severity (6/6 assessed), seizures (6/7), visual impairment (2/7), pyramidal signs (4 individuals), brain MRI abnormalities (7/8). MRI findings included polymicrogyria, heterotopia, ventriculomegaly and white matter hyperintensities, hypoplasia of corpus callosum.

TCP1 is associated with Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 (OMIM accessed 20th Feb 2026).
Sources: Literature
Early onset or syndromic epilepsy v8.113 TCP1 Ida Ertmanska gene: TCP1 was added
gene: TCP1 was added to Early onset or syndromic epilepsy. Sources: Literature
Q1_26_promote_green tags were added to gene: TCP1.
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
Review for gene: TCP1 was set to GREEN
Added comment: PMID: 39480921 Kraft et al., 2024
8 individuals reported with heterozygous TCP1 (CCT1) variants (frameshift, missense, stop gain - 5 confirmed de novo). Patients presented with ID, seizures, and brain malformations. Phenotype spectrum: DD/ID of variable severity (6/6 assessed), seizures (6/7), visual impairment (2/7), pyramidal signs (4 individuals), brain MRI abnormalities (7/8). MRI findings included polymicrogyria, heterotopia, ventriculomegaly and white matter hyperintensities, hypoplasia of corpus callosum.

TCP1 is associated with Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 (OMIM accessed 20th Feb 2026).
Sources: Literature
Intellectual disability v9.266 TCP1 Ida Ertmanska gene: TCP1 was added
gene: TCP1 was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: TCP1.
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
Review for gene: TCP1 was set to GREEN
Added comment: PMID: 39480921 Kraft et al., 2024
8 individuals reported with heterozygous TCP1 (CCT1) variants (frameshift, missense, stop gain - 5 confirmed de novo). Patients presented with ID, seizures, and brain malformations. Phenotype spectrum: DD/ID of variable severity (6/6 assessed), seizures (6/7), visual impairment (2/7), pyramidal signs (4 individuals), brain MRI abnormalities (7/8). MRI findings included polymicrogyria, heterotopia, ventriculomegaly and white matter hyperintensities, hypoplasia of corpus callosum.

TCP1 is associated with Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 (OMIM accessed 20th Feb 2026).
Sources: Literature
Congenital disorders of glycosylation v7.13 STX5 Ida Ertmanska gene: STX5 was added
gene: STX5 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to ?Congenital disorder of glycosylation, type IIaa, OMIM:620454
Review for gene: STX5 was set to RED
Added comment: PMID: 34711829 Linders et al., 2021
Report of a consanguineous Estonian family with 3 affected sibs, homozygous for STX5: c.163A>G (p.Met55Val), deceased shortly after birth. Unaffected mother confirmed heterozygous for the STX variant, paternal DNA not available. Affected individuals presented withearly fatal multisystem disease, including severe liver disease, skeletal abnormalities and abnormal glycosylation.

STX5 is putatively associated with ?Congenital disorder of glycosylation, type IIaa, OMIM:620454 (OMIM accessed 17th Feb 2026).
Sources: Literature
Intellectual disability v9.265 SLC12A9 Ida Ertmanska changed review comment from: PMID: 38334070 Accogli et al., 2024
3 unrelated patients with biallelic LoF variants. Common features included intellectual disability/GDD, skeletal defects (fusion and segmentation vertebral defects) and brain structural abnormalities (thin corpus callosum, hypoplasia of the pons and inferior cerebellar vermis), congenital heart defects, and hypopigmented hair.
Patient 1 was homozygous for SLC12A9 nonsense variant p.(Arg615∗), patient 2 was compound heterozygous for SLC12A9 p.(Ser109Lysfs∗20) and a de novo large deletion, and proband 3 was compound heterozygous for SLC12A9 p.(Glu290Glyfs∗36) and p.(Asn552Lys).
Method: trio exome / genome seq + Sanger seq segregation confirmation.

Functional evidence (rescue): Fibroblasts from proband 1 contained enlarged lysosomes that were corrected by wild-type SLC12A9 cDNA. Patient variant p.(Asn552Lys) failed to correct the lysosomal defect.

This gene is not yet associated with a phenotype in OMIM (accessed 17th Feb 2026).
Sources: Literature; to: PMID: 38334070 Accogli et al., 2024
3 unrelated patients with biallelic LoF variants. Common features included intellectual disability/GDD, skeletal defects (fusion and segmentation vertebral defects) and brain structural abnormalities (thin corpus callosum, hypoplasia of the pons and inferior cerebellar vermis), congenital heart defects, and hypopigmented hair.
Patient 1 was homozygous for SLC12A9 nonsense variant p.(Arg615∗), patient 2 was compound heterozygous for SLC12A9 p.(Ser109Lysfs∗20) and a de novo large deletion 2.1 Mb ((98,261,637-100,363,719)x1 [GRCh37]) on chromosome 7q22.1 that fully encompasses SLC12A9, and proband 3 was compound heterozygous for SLC12A9 p.(Glu290Glyfs∗36) and p.(Asn552Lys).
Method: trio exome / genome seq + Sanger seq segregation confirmation.

Functional evidence (rescue): Fibroblasts from proband 1 contained enlarged lysosomes that were corrected by wild-type SLC12A9 cDNA. Patient variant p.(Asn552Lys) failed to correct the lysosomal defect.

This gene is not yet associated with a phenotype in OMIM (accessed 17th Feb 2026).
Sources: Literature
Intellectual disability v9.265 SLC12A9 Ida Ertmanska Classified gene: SLC12A9 as Amber List (moderate evidence)
Intellectual disability v9.265 SLC12A9 Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals reported in PMID:38334070 with biallelic SLC12A9 variants and a syndromic neurodevelopmental disorder with lysosome defects. ID/GDD was present in all 3 individuals. Hence, this gene should be promoted to Green for Intellectual disability.
Intellectual disability v9.265 SLC12A9 Ida Ertmanska Gene: slc12a9 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.264 SLC12A9 Ida Ertmanska gene: SLC12A9 was added
gene: SLC12A9 was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: SLC12A9.
Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A9 were set to 38334070
Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; neurodevelopmental disorder, MONDO:0700092
Review for gene: SLC12A9 was set to GREEN
Added comment: PMID: 38334070 Accogli et al., 2024
3 unrelated patients with biallelic LoF variants. Common features included intellectual disability/GDD, skeletal defects (fusion and segmentation vertebral defects) and brain structural abnormalities (thin corpus callosum, hypoplasia of the pons and inferior cerebellar vermis), congenital heart defects, and hypopigmented hair.
Patient 1 was homozygous for SLC12A9 nonsense variant p.(Arg615∗), patient 2 was compound heterozygous for SLC12A9 p.(Ser109Lysfs∗20) and a de novo large deletion, and proband 3 was compound heterozygous for SLC12A9 p.(Glu290Glyfs∗36) and p.(Asn552Lys).
Method: trio exome / genome seq + Sanger seq segregation confirmation.

Functional evidence (rescue): Fibroblasts from proband 1 contained enlarged lysosomes that were corrected by wild-type SLC12A9 cDNA. Patient variant p.(Asn552Lys) failed to correct the lysosomal defect.

This gene is not yet associated with a phenotype in OMIM (accessed 17th Feb 2026).
Sources: Literature
Paediatric disorders - additional genes v7.31 SENP7 Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with shared features arthrogryposis failure to thrive, early respiratory failure, neutropenia, hypotonia and recurrent infections. In order to ensure inclusion on R27 Paediatric disorders, this gene should be promoted to Green for Paediatric disorders - additional genes.; to: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with shared features of arthrogryposis, failure to thrive, early respiratory failure, neutropenia, hypotonia and recurrent infections. In order to ensure inclusion on R27 Paediatric disorders, this gene should be promoted to Green for Paediatric disorders - additional genes.
Paediatric disorders - additional genes v7.31 SENP7 Ida Ertmanska Classified gene: SENP7 as Amber List (moderate evidence)
Paediatric disorders - additional genes v7.31 SENP7 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with shared features arthrogryposis failure to thrive, early respiratory failure, neutropenia, hypotonia and recurrent infections. In order to ensure inclusion on R27 Paediatric disorders, this gene should be promoted to Green for Paediatric disorders - additional genes.
Paediatric disorders - additional genes v7.31 SENP7 Ida Ertmanska Gene: senp7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 SENP7 Ida Ertmanska Classified gene: SENP7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 SENP7 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with recurrent infections being a major feature. Based on available evidence, this gene should be promoted to Green for Primary immunodeficiency or monogenic inflammatory bowel disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 SENP7 Ida Ertmanska Gene: senp7 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v7.30 SENP7 Ida Ertmanska gene: SENP7 was added
gene: SENP7 was added to Paediatric disorders - additional genes. Sources: Literature
Q1_26_promote_green tags were added to gene: SENP7.
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 37460201; 38972567; 39763084
Phenotypes for gene: SENP7 were set to arthrogryposis multiplex congenita, MONDO:0015168; Recurrent infections, HP:0002719
Review for gene: SENP7 was set to GREEN
Added comment: PMID: 37460201 Samra et al., 2023
Report of a consanguineous family with 4 affected patients harbouring a homozygous variant SENP7 c.1474C>T; p.(Gln492*). All 4 individuals died before 4 months of age (1 fetal death). Clinical presentation included congenital arthrogryposis (3/3), failure to thrive (3/3), early respiratory failure, neutropenia (2/3), hypotonia (3/3) and recurrent infections.

PMID: 38972567 Kobayashi et al., 2024
Described four infants from three consanguineous unrelated families of Guatemalan, Arab and Turkish ethnicities. Affected individuals presented with a multisystemic disorder, including hypogammaglobulinemia, neutropenia (4/4), recurrent infection (4/4), neurologic features, arthrogryposis (confirmed in 2 cases - upper extremities) and uniform early fatality (all individuals died at 5-10 months of age).
F1: homozygous SENP7 c.2641C>T, p.Q881X
F2: homozygous SENP7 c.880G>T, p.E294X
F3: homozygous SENP7 c.973C>T, p.Q325X
Heterozygosity of parents confirmed by Sanger seq.

PMID: 39763084 Saad et al., 2025
Consanguineous Egyptian family with history of three fetal deaths. WES detected a homozygous SENP7 variant in affected individuals: c.745C>T, p.(Arg249*). Shared presentation included arthrogryposis multiplex congenita, CNS malformations, congenital heart disease, and renal anomalies.

This gene is not yet associated with a disease entity in OMIM (accessed 17th Feb 2026).
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v8.77 SENP7 Ida Ertmanska gene: SENP7 was added
gene: SENP7 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Q1_26_promote_green tags were added to gene: SENP7.
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 37460201; 38972567; 39763084
Phenotypes for gene: SENP7 were set to arthrogryposis multiplex congenita, MONDO:0015168; Recurrent infections, HP:0002719
Review for gene: SENP7 was set to GREEN
Added comment: PMID: 37460201 Samra et al., 2023
Report of a consanguineous family with 4 affected patients harbouring a homozygous variant SENP7 c.1474C>T; p.(Gln492*). All 4 individuals died before 4 months of age (1 fetal death). Clinical presentation included congenital arthrogryposis (3/3), failure to thrive (3/3), early respiratory failure, neutropenia (2/3), hypotonia (3/3) and recurrent infections.

PMID: 38972567 Kobayashi et al., 2024
Described four infants from three consanguineous unrelated families of Guatemalan, Arab and Turkish ethnicities. Affected individuals presented with a multisystemic disorder, including hypogammaglobulinemia, neutropenia (4/4), recurrent infection (4/4), neurologic features, arthrogryposis (confirmed in 2 cases - upper extremities) and uniform early fatality (all individuals died at 5-10 months of age).
F1: homozygous SENP7 c.2641C>T, p.Q881X
F2: homozygous SENP7 c.880G>T, p.E294X
F3: homozygous SENP7 c.973C>T, p.Q325X
Heterozygosity of parents confirmed by Sanger seq.

PMID: 39763084 Saad et al., 2025
Consanguineous Egyptian family with history of three fetal deaths. WES detected a homozygous SENP7 variant in affected individuals: c.745C>T, p.(Arg249*). Shared presentation included arthrogryposis multiplex congenita, CNS malformations, congenital heart disease, and renal anomalies.

This gene is not yet associated with a disease entity in OMIM (accessed 17th Feb 2026).
Sources: Literature
Arthrogryposis v9.21 SENP7 Ida Ertmanska Classified gene: SENP7 as Amber List (moderate evidence)
Arthrogryposis v9.21 SENP7 Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with arthrogryposis multiplex congenita being a major feature. Based on available evidence, this gene should be promoted to Green for Arthrogryposis.
Arthrogryposis v9.21 SENP7 Ida Ertmanska Gene: senp7 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v9.20 SENP7 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: SENP7.
Arthrogryposis v9.20 SENP7 Ida Ertmanska gene: SENP7 was added
gene: SENP7 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 37460201; 38972567; 39763084
Phenotypes for gene: SENP7 were set to arthrogryposis multiplex congenita, MONDO:0015168
Review for gene: SENP7 was set to GREEN
Added comment: PMID: 37460201 Samra et al., 2023
Report of a consanguineous family with 4 affected patients harbouring a homozygous variant SENP7 c.1474C>T; p.(Gln492*). All 4 individuals died before 4 months of age (1 fetal death). Clinical presentation included congenital arthrogryposis (3/3), failure to thrive (3/3), early respiratory failure, neutropenia (2/3), hypotonia (3/3) and recurrent infections.

PMID: 38972567 Kobayashi et al., 2024
Described four infants from three consanguineous unrelated families of Guatemalan, Arab and Turkish ethnicities. Affected individuals presented with a multisystemic disorder, including hypogammaglobulinemia, neutropenia (4/4), recurrent infection (4/4), neurologic features, arthrogryposis (confirmed in 2 cases - upper extremities) and uniform early fatality (all individuals died at 5-10 months of age).
F1: homozygous SENP7 c.2641C>T, p.Q881X
F2: homozygous SENP7 c.880G>T, p.E294X
F3: homozygous SENP7 c.973C>T, p.Q325X
Heterozygosity of parents confirmed by Sanger seq.

PMID: 39763084 Saad et al., 2025
Consanguineous Egyptian family with history of three fetal deaths. WES detected a homozygous SENP7 variant in affected individuals: c.745C>T, p.(Arg249*). Shared presentation included arthrogryposis multiplex congenita, CNS malformations, congenital heart disease, and renal anomalies.

This gene is not yet associated with a disease entity in OMIM (accessed 17th Feb 2026).
Sources: Literature
Intellectual disability v9.263 PPFIA3 Ida Ertmanska changed review comment from: Comment on list classification: There are 17 unrelated individuals with heterozygous PPFIA3 variants and 1 patient with biallelic PPFIA3 variants, presenting with a syndromic neurodevelopmental disorder. Intellectual disability and/or developmental delay were the presenting features in 18/20 cases. Based on available evidence this gene should be promoted to Green for Intellectual disability.; to: Comment on list classification: There are 17 unrelated individuals with heterozygous PPFIA3 variants and 1 patient with biallelic PPFIA3 variants, presenting with a syndromic neurodevelopmental disorder. Intellectual disability and/or developmental delay were the presenting features in majority of cases. Based on available evidence this gene should be promoted to Green for Intellectual disability.
Intellectual disability v9.263 PPFIA3 Ida Ertmanska changed review comment from: PMID: 38181735 Paul et al., 2024
20 individuals from 18 families with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy. ID/GDD was a presenting feature in 18/20 individuals; 6/20 individuals had epilepsy (see suppl data).
Sources: Literature; to: PMID: 38181735 Paul et al., 2024
20 individuals from 18 families with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy. ID/GDD was a presenting feature in 18/20 individuals; 6/20 individuals had epilepsy (see suppl data).
Sources: Literature
Intellectual disability v9.263 PPFIA3 Ida Ertmanska Classified gene: PPFIA3 as Amber List (moderate evidence)
Intellectual disability v9.263 PPFIA3 Ida Ertmanska Added comment: Comment on list classification: There are 17 unrelated individuals with heterozygous PPFIA3 variants and 1 patient with biallelic PPFIA3 variants, presenting with a syndromic neurodevelopmental disorder. Intellectual disability and/or developmental delay were the presenting features in 18/20 cases. Based on available evidence this gene should be promoted to Green for Intellectual disability.
Intellectual disability v9.263 PPFIA3 Ida Ertmanska Gene: ppfia3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.262 PPFIA3 Ida Ertmanska gene: PPFIA3 was added
gene: PPFIA3 was added to Intellectual disability. Sources: Literature
Q1_26_promote_green tags were added to gene: PPFIA3.
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPFIA3 were set to 38181735
Phenotypes for gene: PPFIA3 were set to Paul-Chao neurodevelopmental syndrome, OMIM:621122
Review for gene: PPFIA3 was set to GREEN
Added comment: PMID: 38181735 Paul et al., 2024
20 individuals from 18 families with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy. ID/GDD was a presenting feature in 18/20 individuals; 6/20 individuals had epilepsy (see suppl data).
Sources: Literature
Malformations of cortical development v7.23 ASTN1 Ida Ertmanska Classified gene: ASTN1 as Amber List (moderate evidence)
Malformations of cortical development v7.23 ASTN1 Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: There are more than 3 unrelated individuals reported with biallelic ASTN1 variants and a neurodevelopmental disorder. 11 patients were reported have abnormal brain MRI results, including callosal dysgenesis (7) and dysgenesis of the cerebellum (5). Based on available evidence, this gene should be promoted to Green for Malformations of cortical development.
Malformations of cortical development v7.23 ASTN1 Ida Ertmanska Gene: astn1 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v7.22 ASTN1 Ida Ertmanska gene: ASTN1 was added
gene: ASTN1 was added to Malformations of cortical development. Sources: Literature
Q1_26_promote_green tags were added to gene: ASTN1.
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 41544630
Phenotypes for gene: ASTN1 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ASTN1 was set to GREEN
Added comment: PMID: 41544630 Levine et al., 2026
Report of 18 individuals from 12 unrelated families with biallelic ASTN1 variants and a neurodevelopmental disorder, plus one individual with digenic inheritance with heterozygous variants in ASTN1 and ASTN2. Of these, 6 families are previously unreported (F1-6). Method: exome seq. Phenotypic spectrum: ID/DD (18/18 - mild to severe), seizures and/or epileptiform activity on EEG (10/18), subtle dysmorphic features (11/18), hypotonia (10/18), ataxia (4/18), hyperreflexia (5/18), and other less common findings.
Brain MRI was abnormal in 11/15 tested individuals, with callosal dysgenesis (7/15) and dysgenesis of the cerebellum (5/15) being most common findings.
Variants included missense, nonsense, and splice type. 2 patients had other candidate variants reported:
P1 - KDM3A:c.1639C>T, (p.Arg547Ter) de novo, heterozygous
P4 - TRAK2:c.1675C>T, (p.Gln559Ter) homozygous
Neither of these genes is linked to disease in OMIM.

ASTN1 is not yet associated with disease in OMIM, ClinGen, or Gene2Phenotype (resources accessed 10th Feb 2026).
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v8.59 JKAMP Ida Ertmanska commented on gene: JKAMP
Malformations of cortical development v7.21 JKAMP Ida Ertmanska changed review comment from: Comment on list classification: There are 14 affected individuals from 10 unrelated families reported in literature with biallelic JKAMP variants and a neurodevelopmental disorder. MRI findings were abnormal in 12/14 subjects, including cortical and or cerebral atrophy (11/14) and delayed myelination (6/14). Based on available evidence, JKAMP should be promoted to Green for Ataxia and cerebellar anomalies - narrow panel.; to: Comment on list classification: There are 14 affected individuals from 10 unrelated families reported in literature with biallelic JKAMP variants and a neurodevelopmental disorder. MRI findings were abnormal in 12/14 subjects, including cortical and or cerebral atrophy (11/14) and delayed myelination (6/14). Based on available evidence, JKAMP should be promoted to Green for Malformations of cortical development.
Childhood onset hereditary spastic paraplegia v8.28 SPTAN1 Arina Puzriakova Tag watchlist_moi tag was added to gene: SPTAN1.
Childhood onset hereditary spastic paraplegia v8.28 SPTAN1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
Childhood onset hereditary spastic paraplegia v8.28 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Developmental and epileptic encephalopathy 5, OMIM:613477; Developmental delay with or without epilepsy, OMIM:620540; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Adult onset hereditary spastic paraplegia v6.7 SPTAN1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
Adult onset hereditary spastic paraplegia v6.7 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Developmental and epileptic encephalopathy 5, OMIM:613477; Developmental delay with or without epilepsy, OMIM:620540; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Intellectual disability v9.261 SPTAN1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
Intellectual disability v9.261 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Developmental and epileptic encephalopathy 5, OMIM:613477; Developmental delay with or without epilepsy, OMIM:620540; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Early onset or syndromic epilepsy v8.112 SPTAN1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
Early onset or syndromic epilepsy v8.112 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Developmental and epileptic encephalopathy 5, OMIM:613477; Developmental delay with or without epilepsy, OMIM:620540; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Hereditary neuropathy or pain disorder v7.36 SPTAN1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
Hereditary neuropathy or pain disorder v7.36 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Neuronopathy, distal hereditary motor, autosomal dominant 11, OMIM:620528; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Hereditary ataxia with onset in adulthood v8.23 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Developmental and epileptic encephalopathy 5, OMIM:613477; Developmental delay with or without epilepsy, OMIM:620540; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Ataxia and cerebellar anomalies - narrow panel v8.59 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Developmental and epileptic encephalopathy 5, OMIM:613477; Developmental delay with or without epilepsy, OMIM:620540; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Monogenic hearing loss v5.51 MITF Ida Ertmanska changed review comment from: PMID: 32728090 Thongpradit et al., 2020
Identified a homozygous c.1022G>A: p.Arg341His variant of MITF, which co-segregated with non-syndromic hearing loss in five affected children of a consanguineous hearing couple.; to: PMID: 30117279 Rauschendorf et al., 2019
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. Report of a 6 month old Argentinian boy, parents were siblings. Proband homozygous for intronic MITF c.33+5G>C variant, which co-segregated with less severe features in heterozygous family members. The proband presented with congenital bilateral deafness, hair and skin depigmentation, and iris pigmentation abnormalities. Variant was previously reported in heterozygous state in a patient with Waardenburg syndrome in PMID: 21373256 Haddad et al., 2011.

PMID: 32728090 Thongpradit et al., 2020
Identified a homozygous c.1022G>A: p.Arg341His variant of MITF, which co-segregated with non-syndromic hearing loss in five affected children of a consanguineous hearing couple.
Monogenic hearing loss v5.51 MITF Ida Ertmanska edited their review of gene: MITF: Changed publications to: 30117279, 32728090; Changed phenotypes to: hearing loss, autosomal recessive, MONDO:0019588, Waardenburg syndrome, type 2A, OMIM:193510, COMMAD syndrome, OMIM:617306
Monogenic hearing loss v5.51 MITF Ida Ertmanska reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32728090; Phenotypes: hearing loss, autosomal recessive, MONDO:0019588; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cholestasis v3.19 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200; MONDO:0044327 to Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200
Neonatal cholestasis v1.29 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Ductal plate malformation v1.31 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4 with or without hepatic disease (263200) to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Cystic kidney disease v8.3 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Autosomal Recessive Polycystic Kidney Disease; Polycystic Kidney Disease, Autosomal Recessive; Polycystic kidney and hepatic disease, 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Unexplained kidney failure in young people v1.124 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Fetal anomalies v6.138 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Intellectual disability v9.260 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Renal ciliopathies v4.6 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Rare multisystem ciliopathy disorders v1.180 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
DDG2P v6.241 MAN2A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAN2A2 was changed from Other to None
DDG2P v6.240 MAN1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAN1B1 was changed from Other to None
DDG2P v6.240 MAF Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAF was changed from Other to None
DDG2P v6.239 MACF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MACF1 was changed from Other to None
DDG2P v6.239 LZTR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LZTR1 was changed from Other to None
DDG2P v6.238 LSM11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LSM11 was changed from Other to None
DDG2P v6.238 LONP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LONP1 was changed from Other - please provide details in the comments to None
DDG2P v6.237 LMNB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LMNB2 was changed from Other to None
DDG2P v6.236 LMNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LMNB1 was changed from Other to None
DDG2P v6.236 LMBRD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LMBRD2 was changed from Other to None
DDG2P v6.235 LIPT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIPT2 was changed from Other to None
DDG2P v6.235 LIPT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIPT1 was changed from Other to None
DDG2P v6.234 LIAS Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIAS was changed from Other to None
DDG2P v6.234 LFNG Achchuthan Shanmugasundram Mode of pathogenicity for gene: LFNG was changed from Other to None
DDG2P v6.233 LETM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LETM1 was changed from Other to None
DDG2P v6.232 LEMD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LEMD2 was changed from Other to None
DDG2P v6.232 LDB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LDB3 was changed from Other to None
DDG2P v6.231 LAS1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: LAS1L was changed from Other to None
DDG2P v6.231 LARS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LARS2 was changed from Other to None
DDG2P v6.230 LAGE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LAGE3 was changed from Other to None
DDG2P v6.229 KRT74 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KRT74 was changed from Other to None
DDG2P v6.229 KPNA7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KPNA7 was changed from Other to None
DDG2P v6.228 KLHL7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KLHL7 was changed from Other - please provide details in the comments to None
DDG2P v6.227 KLHL20 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KLHL20 was changed from Other to None
DDG2P v6.227 KLF7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KLF7 was changed from Other to None
DDG2P v6.226 KIRREL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIRREL3 was changed from Other to None
DDG2P v6.226 KIF5C Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIF5C was changed from Other to None
DDG2P v6.225 KIF5B Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIF5B was changed from Other to None
DDG2P v6.225 KIF3B Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIF3B was changed from Other to None
DDG2P v6.224 KDM5A Achchuthan Shanmugasundram Mode of pathogenicity for gene: KDM5A was changed from Other to None
DDG2P v6.223 KDM1A Achchuthan Shanmugasundram Mode of pathogenicity for gene: KDM1A was changed from Other to None
DDG2P v6.222 KCNT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNT1 was changed from Other to None
DDG2P v6.222 KCNQ3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNQ3 was changed from Other to None
DDG2P v6.221 KCNMA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNMA1 was changed from Other - please provide details in the comments to None
DDG2P v6.221 KCNK3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNK3 was changed from Other to None
DDG2P v6.220 KCNJ6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNJ6 was changed from Other to None
DDG2P v6.219 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Other - please provide details in the comments to None
DDG2P v6.218 KCNE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNE1 was changed from Other to None
DDG2P v6.218 KCND2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCND2 was changed from Other to None
DDG2P v6.217 KCNC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNC3 was changed from Other to None
DDG2P v6.217 KCNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNB1 was changed from Other to None
DDG2P v6.216 KCNA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNA4 was changed from Other to None
DDG2P v6.216 KCNA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNA1 was changed from Other to None
DDG2P v6.215 KBTBD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KBTBD13 was changed from Other to None
DDG2P v6.214 KAT5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KAT5 was changed from Other to None
DDG2P v6.213 IRX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IRX5 was changed from Other to None
DDG2P v6.213 IQSEC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IQSEC2 was changed from Other - please provide details in the comments to None
DDG2P v6.212 IQSEC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IQSEC1 was changed from Other to None
DDG2P v6.212 INTS11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: INTS11 was changed from Other to None
DDG2P v6.211 IGBP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IGBP1 was changed from Other to None
DDG2P v6.210 INPP5K Achchuthan Shanmugasundram Mode of pathogenicity for gene: INPP5K was changed from Other to None
DDG2P v6.209 IL11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IL11 was changed from Other to None
DDG2P v6.209 IHH Achchuthan Shanmugasundram Mode of pathogenicity for gene: IHH was changed from Other to None
DDG2P v6.208 IFT80 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT80 was changed from Other to None
DDG2P v6.207 IFT43 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT43 was changed from Other to None
DDG2P v6.206 IFT122 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT122 was changed from Other to None
DDG2P v6.206 IFITM5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFITM5 was changed from Other to None
DDG2P v6.205 IFIH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFIH1 was changed from Other to None
DDG2P v6.204 IER3IP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IER3IP1 was changed from Other to None
DDG2P v6.203 HYLS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HYLS1 was changed from Other to None
DDG2P v6.202 HUWE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HUWE1 was changed from Other to None
DDG2P v6.202 HSF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HSF4 was changed from Other to None
DDG2P v6.201 HOXD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HOXD13 was changed from Other to None
DDG2P v6.200 HOXB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HOXB1 was changed from Other to None
DDG2P v6.199 HNRNPH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HNRNPH2 was changed from Other to None
DDG2P v6.199 HMGCS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HMGCS2 was changed from Other to None
DDG2P v6.198 HMGCR Achchuthan Shanmugasundram Mode of pathogenicity for gene: HMGCR was changed from Other to None
DDG2P v6.197 HECW2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HECW2 was changed from Other to None
DDG2P v6.196 HECTD4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HECTD4 was changed from Other to None
DDG2P v6.195 HDAC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HDAC3 was changed from Other to None
DDG2P v6.194 HCN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HCN1 was changed from Other to None
DDG2P v6.194 HARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: HARS was changed from Other to None
DDG2P v6.193 HIST1H4C Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST1H4C was changed from Other to None
DDG2P v6.192 HIST1H4J Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST1H4J was changed from Other to None
DDG2P v6.191 HIST3H3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST3H3 was changed from Other to None
DDG2P v6.190 H3F3B Achchuthan Shanmugasundram Mode of pathogenicity for gene: H3F3B was changed from Other to None
DDG2P v6.189 H3F3A Achchuthan Shanmugasundram Mode of pathogenicity for gene: H3F3A was changed from Other to None
DDG2P v6.189 GTF2IRD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GTF2IRD1 was changed from Other to None
DDG2P v6.188 GTF2E2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GTF2E2 was changed from Other to None
DDG2P v6.188 GRIN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRIN1 was changed from Other - please provide details in the comments to None
DDG2P v6.187 GRIA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRIA4 was changed from Other to None
DDG2P v6.186 GRHL2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRHL2 was changed from Other to None
DDG2P v6.186 GOT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GOT2 was changed from Other to None
DDG2P v6.185 GNE Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNE was changed from Other to None
DDG2P v6.185 GNB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNB2 was changed from Other to None
DDG2P v6.184 GNAI3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNAI3 was changed from Other to None
DDG2P v6.183 GNAI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNAI1 was changed from Other to None
DDG2P v6.183 GMPPB Achchuthan Shanmugasundram Mode of pathogenicity for gene: GMPPB was changed from Other - please provide details in the comments to None
DDG2P v6.182 GLUL Achchuthan Shanmugasundram Mode of pathogenicity for gene: GLUL was changed from Other to None
DDG2P v6.182 GLE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GLE1 was changed from Other to None
DDG2P v6.181 GJA8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJA8 was changed from Other to None
DDG2P v6.180 GJC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJC2 was changed from Other to None
DDG2P v6.179 GJA3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJA3 was changed from Other to None
DDG2P v6.179 GEMIN4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GEMIN4 was changed from Other to None
DDG2P v6.178 GDF6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF6 was changed from Other to None
DDG2P v6.178 GDF5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF5 was changed from Other - please provide details in the comments to None
DDG2P v6.177 GDF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF3 was changed from Other to None
DDG2P v6.176 GCH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GCH1 was changed from Other to None
DDG2P v6.175 GCDH Achchuthan Shanmugasundram Mode of pathogenicity for gene: GCDH was changed from Other to None
DDG2P v6.174 GAD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GAD1 was changed from Other to None
DDG2P v6.173 GABRG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRG1 was changed from Other to None
DDG2P v6.172 GABRB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRB3 was changed from Other to None
DDG2P v6.172 GABRB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRB2 was changed from Other to None
DDG2P v6.171 GABRA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRA2 was changed from Other to None
DDG2P v6.171 GABBR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABBR2 was changed from Other to None
DDG2P v6.170 GABBR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABBR1 was changed from Other to None
DDG2P v6.169 FZR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FZR1 was changed from Other to None
DDG2P v6.169 FXN Achchuthan Shanmugasundram Mode of pathogenicity for gene: FXN was changed from Other to None
DDG2P v6.168 FTO Achchuthan Shanmugasundram Mode of pathogenicity for gene: FTO was changed from Other to None
DDG2P v6.168 FRMD5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FRMD5 was changed from Other to None
DDG2P v6.167 FOXP4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOXP4 was changed from Other to None
DDG2P v6.166 FOXI3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOXI3 was changed from Other to None
DDG2P v6.166 FOXE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOXE1 was changed from Other to None
DDG2P v6.165 FOSL2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOSL2 was changed from Other to None
DDG2P v6.165 FN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FN1 was changed from Other to None
DDG2P v6.164 FLVCR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FLVCR1 was changed from Other to None
DDG2P v6.164 FLT4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FLT4 was changed from Other - please provide details in the comments to None
DDG2P v6.163 FICD Achchuthan Shanmugasundram Mode of pathogenicity for gene: FICD was changed from Other to None
DDG2P v6.163 FGFR3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FGFR3 was changed from Other to None
DDG2P v6.163 FGFR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FGFR2 was changed from Other to None
DDG2P v6.162 FDXR Achchuthan Shanmugasundram Mode of pathogenicity for gene: FDXR was changed from Other to None
DDG2P v6.162 FUK Achchuthan Shanmugasundram Mode of pathogenicity for gene: FUK was changed from Other to None
DDG2P v6.162 FBXW7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW7 was changed from Other to None
DDG2P v6.161 FBXW4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW4 was changed from Other to None
DDG2P v6.161 FBXW11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW11 was changed from Other to None
DDG2P v6.160 FBXO28 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXO28 was changed from Other to None
DDG2P v6.160 FBLN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBLN1 was changed from Other to None
DDG2P v6.160 FASN Achchuthan Shanmugasundram Mode of pathogenicity for gene: FASN was changed from Other to None
DDG2P v6.159 EZH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EZH2 was changed from Other to None
DDG2P v6.159 EXTL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EXTL3 was changed from Other to None
DDG2P v6.158 EXOSC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EXOSC3 was changed from Other - please provide details in the comments to None
DDG2P v6.158 ERLIN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERLIN2 was changed from Other to None
DDG2P v6.157 ERI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERI1 was changed from Other to None
DDG2P v6.157 ERBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERBB3 was changed from Other to None
DDG2P v6.156 EPB41L3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EPB41L3 was changed from Other to None
DDG2P v6.156 EPB41L1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EPB41L1 was changed from Other to None
DDG2P v6.155 ENTPD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ENTPD1 was changed from Other to None
DDG2P v6.155 EMG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EMG1 was changed from Other to None
DDG2P v6.154 ELP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ELP2 was changed from Other to None
Adult onset neurodegenerative disorder v8.11 CTSA Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated on 16th Feb 2026.
Adult onset neurodegenerative disorder v8.11 CTSA Ida Ertmanska Phenotypes for gene: CTSA were changed from Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 to Brain small vessel disease 6 with leukoencephalopathy, OMIM:621394; cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551
DDG2P v6.154 EIF4A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF4A3 was changed from Other to None
DDG2P v6.153 EIF4A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF4A2 was changed from Other to None
DDG2P v6.153 EIF2AK2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF2AK2 was changed from Other to None
DDG2P v6.152 EIF2AK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF2AK1 was changed from Other to None
DDG2P v6.152 EED Achchuthan Shanmugasundram Mode of pathogenicity for gene: EED was changed from Other to None
DDG2P v6.151 WDR34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR34 was changed from Other to None
DDG2P v6.151 DYNC1H1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DYNC1H1 was changed from Other to None
DDG2P v6.150 DSP Achchuthan Shanmugasundram Mode of pathogenicity for gene: DSP was changed from Other to None
DDG2P v6.150 DSE Achchuthan Shanmugasundram Mode of pathogenicity for gene: DSE was changed from Other to None
DDG2P v6.149 DPYSL5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DPYSL5 was changed from Other to None
DDG2P v6.148 DOLK Achchuthan Shanmugasundram Mode of pathogenicity for gene: DOLK was changed from Other to None
DDG2P v6.148 DNM1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNM1L was changed from Other to None
DDG2P v6.147 DNM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNM1 was changed from Other - please provide details in the comments to None
DDG2P v6.146 DNAAF5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNAAF5 was changed from Other to None
DDG2P v6.146 DLX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DLX5 was changed from Other to None
DDG2P v6.145 DLG2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DLG2 was changed from Other to None
DDG2P v6.145 DIP2C Achchuthan Shanmugasundram Mode of pathogenicity for gene: DIP2C was changed from Other to None
DDG2P v6.144 DIP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: DIP2B was changed from Other to None
DDG2P v6.144 DHX37 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX37 was changed from Other to None
DDG2P v6.143 DHX34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX34 was changed from Other to None
DDG2P v6.143 DHX30 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX30 was changed from Other to None
DDG2P v6.142 DHX16 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX16 was changed from Other to None
DDG2P v6.141 DHRS3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHRS3 was changed from Other to None
DDG2P v6.140 DHPS Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHPS was changed from Other to None
DDG2P v6.140 DHFR Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHFR was changed from Other to None
DDG2P v6.139 DHDDS Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHDDS was changed from Other to None
DDG2P v6.138 DENND5B Achchuthan Shanmugasundram Mode of pathogenicity for gene: DENND5B was changed from Other to None
DDG2P v6.137 DEAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DEAF1 was changed from Other - please provide details in the comments to None
DDG2P v6.136 DDX6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX6 was changed from Other to None
DDG2P v6.135 DDX59 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX59 was changed from Other to None
DDG2P v6.134 DDX54 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX54 was changed from Other to None
DDG2P v6.134 DDX23 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX23 was changed from Other to None
DDG2P v6.133 DDR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDR2 was changed from Other to None
DDG2P v6.132 DDB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDB1 was changed from Other to None
DDG2P v6.131 DARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: DARS was changed from Other to None
DDG2P v6.131 DAG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAG1 was changed from Other to None
DDG2P v6.130 DACT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DACT1 was changed from Other to None
DDG2P v6.129 CYP1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYP1B1 was changed from Other to None
DDG2P v6.128 CYFIP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYFIP2 was changed from Other to None
DDG2P v6.127 CYC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYC1 was changed from Other to None
DDG2P v6.126 CUX2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CUX2 was changed from Other to None
DDG2P v6.126 CSNK1G1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CSNK1G1 was changed from Other to None
DDG2P v6.125 CRYBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRYBB3 was changed from Other to None
DDG2P v6.124 CRLS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRLS1 was changed from Other to None
DDG2P v6.123 CRKL Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRKL was changed from Other to None
DDG2P v6.122 CRELD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRELD1 was changed from Other to None
DDG2P v6.121 CRADD Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRADD was changed from Other to None
DDG2P v6.120 CPSF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CPSF3 was changed from Other to None
DDG2P v6.120 COX18 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COX18 was changed from Other to None
DDG2P v6.119 COX10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COX10 was changed from Other to None
DDG2P v6.118 COQ5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COQ5 was changed from Other to None
DDG2P v6.117 COPB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COPB1 was changed from Other to None
DDG2P v6.117 COL6A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL6A1 was changed from Other to None
DDG2P v6.116 COL1A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL1A1 was changed from Other to None
DDG2P v6.115 COL11A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL11A2 was changed from Other to None
DDG2P v6.114 CNOT9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT9 was changed from Other to None
DDG2P v6.113 CNOT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT2 was changed from Other to None
DDG2P v6.112 CNOT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT1 was changed from Other to None
DDG2P v6.111 CLPP Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLPP was changed from Other to None
DDG2P v6.110 CLP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLP1 was changed from Other to None
DDG2P v6.109 CLIC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLIC2 was changed from Other to None
DDG2P v6.108 CLDN5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLDN5 was changed from Other to None
DDG2P v6.107 CLDN19 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLDN19 was changed from Other to None
DDG2P v6.106 CLCN6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLCN6 was changed from Other to None
DDG2P v6.105 CLCN4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLCN4 was changed from Other to None
DDG2P v6.104 CIT Achchuthan Shanmugasundram Mode of pathogenicity for gene: CIT was changed from Other to None
DDG2P v6.103 CHRM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CHRM1 was changed from Other to None
DDG2P v6.102 CHD3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CHD3 was changed from Other to None
DDG2P v6.101 CFL2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CFL2 was changed from Other to None
DDG2P v6.100 CELSR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CELSR1 was changed from Other to None
DDG2P v6.99 CDON Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDON was changed from Other to None
DDG2P v6.98 CDK8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK8 was changed from Other to None
DDG2P v6.97 CDK19 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK19 was changed from Other to None
DDG2P v6.96 CDK13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK13 was changed from Other to None
DDG2P v6.95 CDH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDH2 was changed from Other to None
DDG2P v6.94 CDH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDH1 was changed from Other to None
DDG2P v6.93 CDC42 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDC42 was changed from Other to None
DDG2P v6.92 CDC40 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDC40 was changed from Other to None
DDG2P v6.91 CCDC22 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CCDC22 was changed from Other to None
DDG2P v6.90 CBFB Achchuthan Shanmugasundram Mode of pathogenicity for gene: CBFB was changed from Other to None
DDG2P v6.89 CAPRIN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CAPRIN1 was changed from Other to None
DDG2P v6.88 CAMK2G Achchuthan Shanmugasundram Mode of pathogenicity for gene: CAMK2G was changed from Other to None
DDG2P v6.87 CACNA2D1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA2D1 was changed from Other to None
DDG2P v6.86 CACNA1H Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA1H was changed from Other to None
DDG2P v6.85 CACNA1A Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA1A was changed from Other to None
DDG2P v6.84 C1QBP Achchuthan Shanmugasundram Mode of pathogenicity for gene: C1QBP was changed from Other to None
DDG2P v6.83 C12orf57 Achchuthan Shanmugasundram Mode of pathogenicity for gene: C12orf57 was changed from Other to None
DDG2P v6.82 BSN Achchuthan Shanmugasundram Mode of pathogenicity for gene: BSN was changed from Other to None
DDG2P v6.81 BORCS8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BORCS8 was changed from Other to None
DDG2P v6.80 KIAA1109 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIAA1109 was changed from Other to None
DDG2P v6.79 BICD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BICD2 was changed from Other to None
DDG2P v6.78 BHLHA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BHLHA9 was changed from Other to None
DDG2P v6.77 BFSP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BFSP2 was changed from Other to None
DDG2P v6.76 BCORL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BCORL1 was changed from Other to None
DDG2P v6.75 BAP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BAP1 was changed from Other to None
DDG2P v6.74 BANF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BANF1 was changed from Other to None
DDG2P v6.73 B3GAT3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: B3GAT3 was changed from Other to None
DDG2P v6.72 AXIN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AXIN1 was changed from Other to None
DDG2P v6.71 ATP8A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP8A2 was changed from Other to None
DDG2P v6.70 ATP6V1E1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6V1E1 was changed from Other to None
DDG2P v6.69 ATP6V1A Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6V1A was changed from Other to None
DDG2P v6.68 ATP6V0A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6V0A1 was changed from Other to None
DDG2P v6.67 ATP6AP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6AP2 was changed from Other to None
DDG2P v6.66 ATP5D Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP5D was changed from Other to None
DDG2P v6.65 ATP5A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP5A1 was changed from Other to None
DDG2P v6.64 ATP1A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP1A3 was changed from Other to None
DDG2P v6.63 ATP1A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP1A1 was changed from Other to None
DDG2P v6.62 ATOH7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATOH7 was changed from Other to None
DDG2P v6.61 ATN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATN1 was changed from Other to None
DDG2P v6.60 ATG4D Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATG4D was changed from Other to None
DDG2P v6.59 ASH1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASH1L was changed from Other to None
DDG2P v6.58 ASCL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASCL1 was changed from Other to None
DDG2P v6.57 ASCC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASCC3 was changed from Other to None
DDG2P v6.56 ARPC4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARPC4 was changed from Other to None
DDG2P v6.55 ARL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARL3 was changed from Other to None
DDG2P v6.54 ARL14EP Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARL14EP was changed from Other to None
DDG2P v6.53 ARF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARF1 was changed from Other to None
DDG2P v6.52 AP2S1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AP2S1 was changed from Other to None
DDG2P v6.51 AP2M1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AP2M1 was changed from Other to None
DDG2P v6.50 ANO3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANO3 was changed from Other to None
DDG2P v6.49 ANKRD26 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD26 was changed from Other to None
DDG2P v6.48 ANKRD11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD11 was changed from None to None
DDG2P v6.47 ANKRD11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD11 was changed from Other to None
DDG2P v6.46 ANGPT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANGPT2 was changed from Other to None
DDG2P v6.45 ALPL Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALPL was changed from Other to None
DDG2P v6.44 AMOTL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AMOTL1 was changed from Other to None
DDG2P v6.43 ALG13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALG13 was changed from Other to None
DDG2P v6.42 ALDOA Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALDOA was changed from Other to None
DDG2P v6.41 ALDH1A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALDH1A2 was changed from Other to None
DDG2P v6.40 ALAD Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALAD was changed from Other to None
DDG2P v6.39 AKT3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AKT3 was changed from Other to None
DDG2P v6.38 AKT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AKT2 was changed from Other to None
DDG2P v6.37 AIFM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AIFM1 was changed from Other to None
DDG2P v6.36 AGPS Achchuthan Shanmugasundram Mode of pathogenicity for gene: AGPS was changed from Other to None
DDG2P v6.35 AGO1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AGO1 was changed from Other to None
DDG2P v6.34 AFF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AFF3 was changed from Other to None
DDG2P v6.33 ADSL Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADSL was changed from Other to None
DDG2P v6.32 ADRA2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADRA2B was changed from Other to None
DDG2P v6.31 ADK Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADK was changed from Other to None
DDG2P v6.30 ADCY5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADCY5 was changed from Other to None
DDG2P v6.29 ADARB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADARB1 was changed from Other to None
DDG2P v6.28 ADAMTS18 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADAMTS18 was changed from Other - please provide details in the comments to None
DDG2P v6.27 ACVR2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACVR2B was changed from Other to None
DDG2P v6.26 ACTC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACTC1 was changed from Other to None
DDG2P v6.25 ACTA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACTA2 was changed from Other to None
DDG2P v6.24 ACTA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACTA1 was changed from Other to None
DDG2P v6.23 ACADS Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACADS was changed from Other to None
DDG2P v6.22 ABCB7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ABCB7 was changed from Other to None
DDG2P v6.21 ABCB6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ABCB6 was changed from Other to None
DDG2P v6.20 TERT Achchuthan Shanmugasundram Mode of pathogenicity for gene: TERT was changed from Other to None
DDG2P v6.19 COL9A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL9A3 was changed from Other - please provide details in the comments to None
DDG2P v6.18 ABCC9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ABCC9 was changed from Other to None
DDG2P v6.17 ZFHX3 Achchuthan Shanmugasundram Tag de novo tag was added to gene: ZFHX3.
DDG2P v6.17 YWHAE Achchuthan Shanmugasundram Tag de novo tag was added to gene: YWHAE.
DDG2P v6.17 WASF1 Achchuthan Shanmugasundram Tag de novo tag was added to gene: WASF1.
DDG2P v6.17 TMEM63B Achchuthan Shanmugasundram Tag de novo tag was added to gene: TMEM63B.
DDG2P v6.17 SARS Achchuthan Shanmugasundram Tag de novo tag was added to gene: SARS.
DDG2P v6.17 RRAGC Achchuthan Shanmugasundram Tag de novo tag was added to gene: RRAGC.
DDG2P v6.17 RPH3A Achchuthan Shanmugasundram Tag de novo tag was added to gene: RPH3A.
DDG2P v6.17 RNU4-2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: RNU4-2.
DDG2P v6.17 PSMC3 Achchuthan Shanmugasundram Tag de novo tag was added to gene: PSMC3.
DDG2P v6.17 PRPF19 Achchuthan Shanmugasundram Tag de novo tag was added to gene: PRPF19.
DDG2P v6.17 PPFIA3 Achchuthan Shanmugasundram Tag de novo tag was added to gene: PPFIA3.
DDG2P v6.17 PEX14 Achchuthan Shanmugasundram Tag de novo tag was added to gene: PEX14.
DDG2P v6.17 MYH10 Achchuthan Shanmugasundram Tag de novo tag was added to gene: MYH10.
DDG2P v6.17 MKL2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: MKL2.
DDG2P v6.17 MAST3 Achchuthan Shanmugasundram Tag de novo tag was added to gene: MAST3.
DDG2P v6.17 MAP4K4 Achchuthan Shanmugasundram Tag de novo tag was added to gene: MAP4K4.
DDG2P v6.17 LHX2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: LHX2.
DDG2P v6.17 KLHL20 Achchuthan Shanmugasundram Tag de novo tag was added to gene: KLHL20.
DDG2P v6.17 KCNN2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: KCNN2.
DDG2P v6.17 KCND2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: KCND2.
DDG2P v6.17 IKZF2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: IKZF2.
DDG2P v6.17 GABRA2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: GABRA2.
DDG2P v6.17 FOXP4 Achchuthan Shanmugasundram Tag de novo tag was added to gene: FOXP4.
DDG2P v6.17 EIF4A2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: EIF4A2.
DDG2P v6.17 DOT1L Achchuthan Shanmugasundram Tag de novo tag was added to gene: DOT1L.
DDG2P v6.17 DENND5B Achchuthan Shanmugasundram Tag de novo tag was added to gene: DENND5B.
DDG2P v6.17 CTR9 Achchuthan Shanmugasundram Tag de novo tag was added to gene: CTR9.
DDG2P v6.17 CNOT9 Achchuthan Shanmugasundram Tag de novo tag was added to gene: CNOT9.
DDG2P v6.17 CNOT2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: CNOT2.
DDG2P v6.17 CBX1 Achchuthan Shanmugasundram Tag de novo tag was added to gene: CBX1.
DDG2P v6.17 CAMK2D Achchuthan Shanmugasundram Tag de novo tag was added to gene: CAMK2D.
DDG2P v6.17 CACNA1C Achchuthan Shanmugasundram Tag de novo tag was added to gene: CACNA1C.
DDG2P v6.17 ATP1A2 Achchuthan Shanmugasundram Tag de novo tag was added to gene: ATP1A2.
DDG2P v6.17 ZNF599 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: ZNF599.
DDG2P v6.17 SLC24A1 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: SLC24A1.
DDG2P v6.17 MYOC Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: MYOC.
DDG2P v6.17 MYOC Achchuthan Shanmugasundram changed review comment from: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource; to: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource.
DDG2P v6.17 C14orf80 Achchuthan Shanmugasundram commented on gene: C14orf80: The 'new-gene-name' tag has been added as the official HGNC gene symbol for C14orf80 is TEDC1.
DDG2P v6.17 C14orf80 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: C14orf80.
DDG2P v6.17 RNU2-2P Achchuthan Shanmugasundram commented on gene: RNU2-2P: The 'new-gene-name' tag has been added as the official HGNC gene symbol for RNU2-2P is RNU2-2.
DDG2P v6.17 RNU2-2P Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: RNU2-2P.
DDG2P v6.17 ZNF599 Achchuthan Shanmugasundram commented on gene: ZNF599: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource
DDG2P v6.17 SLC24A1 Achchuthan Shanmugasundram commented on gene: SLC24A1: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource
DDG2P v6.17 MYOC Achchuthan Shanmugasundram commented on gene: MYOC: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource
DDG2P v6.17 ZNRF3 Achchuthan Shanmugasundram reviewed gene: ZNRF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39168120; Phenotypes: MONDO:0100038, ZNRF3-related neurodevelopmental disorder with macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 ZNF335 Achchuthan Shanmugasundram reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 40583037, 27540107, 29652087, 31187448, 23178126, 38549403, 34982360, 33216650; Phenotypes: OMIM:615095.0, MONDO:0014043, ZNF335-related microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 XPO1 Achchuthan Shanmugasundram reviewed gene: XPO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40819229, 36807877; Phenotypes: XPO1-related neurodevelopmental disorder with microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 WIPI2 Achchuthan Shanmugasundram reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34557665, 30968111; Phenotypes: MONDO:0032759, WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum, OMIM:618453.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 WDR83OS Achchuthan Shanmugasundram reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30250217, 39471804; Phenotypes: WDR83OS-related neurodevelopmental disorder with hypercholanemia, MONDO:0975877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 WDR44 Achchuthan Shanmugasundram reviewed gene: WDR44: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38191484; Phenotypes: MONDO:0005308, WDR44-related ciliopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v6.17 WBP4 Achchuthan Shanmugasundram reviewed gene: WBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 37963460; Phenotypes: MONDO:0971043, WBP4-related neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 UNC79 Achchuthan Shanmugasundram reviewed gene: UNC79: Rating: RED; Mode of pathogenicity: ; Publications: 37183800; Phenotypes: UNC79-related intellectual disability with focal motor seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 UNC13A Achchuthan Shanmugasundram reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36447687, 41125872, 28192369, 27648472; Phenotypes: UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements, UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder, MONDO:0100038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 UGGT1 Achchuthan Shanmugasundram reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40267907; Phenotypes: MONDO:0015286, UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 UBR5 Achchuthan Shanmugasundram reviewed gene: UBR5: Rating: GREEN; Mode of pathogenicity: ; Publications: 39721588; Phenotypes: MONDO:0700092, UBR5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 TRIM71 Achchuthan Shanmugasundram reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: ; Publications: 38833623; Phenotypes: OMIM:618667.0, TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus, MONDO:0032862; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 TRAPPC6B Achchuthan Shanmugasundram reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28626029, 40350395, 37713627, 31687267; Phenotypes: MONDO:0060640, OMIM:617862.0, TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TONSL Achchuthan Shanmugasundram reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 30773278, 30773277; Phenotypes: TONSL-related sponastrime dysplasia, MONDO:0010068, OMIM:271510.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TMEM184B Achchuthan Shanmugasundram reviewed gene: TMEM184B: Rating: RED; Mode of pathogenicity: ; Publications: 40885185; Phenotypes: TMEM184B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 TM2D3 Achchuthan Shanmugasundram reviewed gene: TM2D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40449487; Phenotypes: TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TIMM22 Achchuthan Shanmugasundram reviewed gene: TIMM22: Rating: RED; Mode of pathogenicity: ; Publications: 30452684; Phenotypes: TIMM22-related combined oxidative phosphorylation deficiency, OMIM:618851.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 C14orf80 Achchuthan Shanmugasundram reviewed gene: C14orf80: Rating: GREEN; Mode of pathogenicity: ; Publications: 39979680, 30842647; Phenotypes: TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TAF1C Achchuthan Shanmugasundram reviewed gene: TAF1C: Rating: RED; Mode of pathogenicity: ; Publications: 32779182, 40371665; Phenotypes: TAF1C-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SREBF2 Achchuthan Shanmugasundram reviewed gene: SREBF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38847193, 26350204; Phenotypes: SREBF2-related complex dermatological, neurological, and skeletal abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SPTSSA Achchuthan Shanmugasundram reviewed gene: SPTSSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 36718090; Phenotypes: MONDO:0957308, OMIM:620416.0, SPTSSA-related complex hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SP9 Achchuthan Shanmugasundram reviewed gene: SP9: Rating: GREEN; Mode of pathogenicity: ; Publications: 38288683; Phenotypes: SP9-related neurodevelopmental disorder with or without epileptic encephalopathy, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SNUPN Achchuthan Shanmugasundram reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 38413582, 38366623; Phenotypes: SNUPN-related muscular dystrophy with or without multi-system involvement, MONDO:0971171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SLIT3 Achchuthan Shanmugasundram reviewed gene: SLIT3: Rating: RED; Mode of pathogenicity: ; Publications: 29100090, 33933663; Phenotypes: SLIT3-related congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SLC39A14 Achchuthan Shanmugasundram reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: ; Publications: 36138644, 27231142, 36247901; Phenotypes: MONDO:0014864, SLC39A14-related early onset dystonia parkinsonism, OMIM:617013.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SLC25A13 Achchuthan Shanmugasundram reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: ; Publications: 37063661, 29152073, 40992288, 36599957; Phenotypes: MONDO:0011601, OMIM:605814.0, SLC25A13-related citrullinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SF1 Achchuthan Shanmugasundram reviewed gene: SF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40987292; Phenotypes: MONDO:0700092, SF1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SEPHS1 Achchuthan Shanmugasundram reviewed gene: SEPHS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38531365; Phenotypes: MONDO:0700092, SEPHS1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RYBP Achchuthan Shanmugasundram reviewed gene: RYBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891528; Phenotypes: MONDO:0100038, RYBP-related neurodevelopmental disorder with congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RREB1 Achchuthan Shanmugasundram reviewed gene: RREB1: Rating: RED; Mode of pathogenicity: ; Publications: 40418122, 38332451; Phenotypes: RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RPS6KC1 Achchuthan Shanmugasundram reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41130203; Phenotypes: RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ROBO1 Achchuthan Shanmugasundram reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35227688, 28286008, 30692597, 29194579; Phenotypes: ROBO1-related neurooculorenal syndrome, OMIM:620305.0, MONDO:0957210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 RNU5B-1 Achchuthan Shanmugasundram reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40442284, 40379786; Phenotypes: RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RNU2-2P Achchuthan Shanmugasundram reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: ; Publications: 40210679, 40442284; Phenotypes: MONDO:0100038, RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RICTOR Achchuthan Shanmugasundram reviewed gene: RICTOR: Rating: RED; Mode of pathogenicity: Other; Publications: 39738822; Phenotypes: RICTOR-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RFX7 Achchuthan Shanmugasundram reviewed gene: RFX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 33658631, 33584783, 36334883, 39007708, 25961944, 25363760; Phenotypes: OMIM:620330.0, MONDO:0957228, RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RFX4 Achchuthan Shanmugasundram reviewed gene: RFX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25961944, 33658631; Phenotypes: RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RFX3 Achchuthan Shanmugasundram reviewed gene: RFX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31981491, 33658631, 35982159, 25844147, 27525107, 37717291, 21792059; Phenotypes: MONDO:0100038, RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RCC1 Achchuthan Shanmugasundram reviewed gene: RCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40683276; Phenotypes: RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 RBCK1 Achchuthan Shanmugasundram reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38922716, 38588043, 35017290, 38329383, 23798481, 38077957, 32187699; Phenotypes: RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency, MONDO:0014389, OMIM:615895.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 RAB5C Achchuthan Shanmugasundram reviewed gene: RAB5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37552066; Phenotypes: RAB5C-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PSMD11 Achchuthan Shanmugasundram reviewed gene: PSMD11: Rating: RED; Mode of pathogenicity: ; Publications: 38866022; Phenotypes: PSMD11-related neurodevelopmental disorder with or without obesity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PPP2R5C Achchuthan Shanmugasundram reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39978342; Phenotypes: PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PPP2R2B Achchuthan Shanmugasundram reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: ; Publications: 25356899, 39565297; Phenotypes: PPP2R2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PPP1R3F Achchuthan Shanmugasundram reviewed gene: PPP1R3F: Rating: RED; Mode of pathogenicity: ; Publications: 37531237; Phenotypes: PPP1R3F-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v6.17 POP1 Achchuthan Shanmugasundram reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27380734, 32134183, 21455487, 28067412, 38351533; Phenotypes: POP1-related anauxetic dysplasia, MONDO:0054561, OMIM:617396.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PLXNB2 Achchuthan Shanmugasundram reviewed gene: PLXNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38458752; Phenotypes: PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PLD1 Achchuthan Shanmugasundram reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33645542, 39681445, 37770978, 27799408, 39553471; Phenotypes: MONDO:0008913, OMIM:212093.0, PLD1-related cardiac valvular dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PKDCC Achchuthan Shanmugasundram reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 36896672, 37592254, 30478137, 38860479; Phenotypes: PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature, OMIM:618821.0, MONDO:0032935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PISD Achchuthan Shanmugasundram reviewed gene: PISD: Rating: RED; Mode of pathogenicity: ; Publications: 31263216, 30858161, 30488656, 38801004; Phenotypes: OMIM:618889.0, MONDO:0030045, PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PHF12 Achchuthan Shanmugasundram reviewed gene: PHF12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONDO:0700092, PHF12-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PHEX Achchuthan Shanmugasundram reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252791, 37059315, 2894375, 15029877, 35896147, 38722819, 39710377, 34633109, 39877728, 16055933, 32329911; Phenotypes: PHEX-related hypophosphatemic rickets, MONDO:0010619, OMIM:307800.0; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v6.17 PARS2 Achchuthan Shanmugasundram reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29410512, 29915213, 25629079, 39253392, 37956963, 38469956, 38087948, 28077841, 32514400; Phenotypes: OMIM:618437.0, PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy, MONDO:0032752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PACSIN3 Achchuthan Shanmugasundram reviewed gene: PACSIN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29202928, 38637313; Phenotypes: PACSIN3-related childhood-onset myopathy with hyperCKaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 NUP188 Achchuthan Shanmugasundram reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 32275884, 32021605; Phenotypes: NUP188-related neurodegeneration, cataracts and facial dysmorphisms, OMIM:618804.0, MONDO:0032926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 NUDCD2 Achchuthan Shanmugasundram reviewed gene: NUDCD2: Rating: RED; Mode of pathogenicity: ; Publications: 37272762; Phenotypes: NUDCD2-related brain and cardiac malformations with cholestasis and renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 NSUN6 Achchuthan Shanmugasundram reviewed gene: NSUN6: Rating: RED; Mode of pathogenicity: ; Publications: 37226891; Phenotypes: NSUN6-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 MMS19 Achchuthan Shanmugasundram reviewed gene: MMS19: Rating: RED; Mode of pathogenicity: ; Publications: 38411040; Phenotypes: MMS19-related dihydropyrimidine dehydrogenase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 MIR140 Achchuthan Shanmugasundram reviewed gene: MIR140: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30804514; Phenotypes: MONDO:0032835, MIR140-related spondyloepiphyseal dysplasia, Nishimura type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 MARK4 Achchuthan Shanmugasundram reviewed gene: MARK4: Rating: RED; Mode of pathogenicity: Other; Publications: 38041405; Phenotypes: MONDO:0700092, MARK4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 MAP3K20 Achchuthan Shanmugasundram reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: ; Publications: 27816943, 38451290, 32021595, 26755636; Phenotypes: MONDO:0054695, MAP3K20-related split-foot malformation with mesoaxial polydactyly, MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies, MAP3K20-related centronuclear myopathy, OMIM:616890.0, MONDO:0014816, OMIM:617760.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 KNL1 Achchuthan Shanmugasundram reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26621532, 22983954, 26626498, 27149178, 27784895, 37937525; Phenotypes: OMIM:604321.0, KNL1-related primary microcephaly, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 KCNB2 Achchuthan Shanmugasundram reviewed gene: KCNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38503299; Phenotypes: KCNB2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 HMGA2 Achchuthan Shanmugasundram reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25809938, 21803798, 38840187, 38516887, 32421827, 29655892; Phenotypes: MONDO:0020795, HMGA2-related Silver-Russell-like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 HEATR5B Achchuthan Shanmugasundram reviewed gene: HEATR5B: Rating: RED; Mode of pathogenicity: ; Publications: 38622473, 33824466; Phenotypes: HEATR5B-related pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GTF3C5 Achchuthan Shanmugasundram reviewed gene: GTF3C5: Rating: GREEN; Mode of pathogenicity: ; Publications: 38520561; Phenotypes: MONDO:0100038, GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GTF3C3 Achchuthan Shanmugasundram reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39636576; Phenotypes: GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GSC Achchuthan Shanmugasundram reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: ; Publications: 24290375; Phenotypes: OMIM:602471.0, MONDO:0011227, GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GABRA4 Achchuthan Shanmugasundram reviewed gene: GABRA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38565639; Phenotypes: GABRA4-related neurodevelopmental disorder with seizures, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 FRYL Achchuthan Shanmugasundram reviewed gene: FRYL: Rating: GREEN; Mode of pathogenicity: ; Publications: 38479391; Phenotypes: MONDO:0975953, FRYL-related neurodevelopmental disorder with dysmorphic facial features, with or without congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 FEZF2 Achchuthan Shanmugasundram reviewed gene: FEZF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38425142; Phenotypes: FEZF2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 FASTKD5 Achchuthan Shanmugasundram reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 40499538; Phenotypes: FASTKD5-related Leigh syndrome, MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 FAM177A1 Achchuthan Shanmugasundram reviewed gene: FAM177A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 38767059; Phenotypes: MONDO:0100038, FAM177A1-related neurodevelopmental disorder with macrocephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 EIF3B Achchuthan Shanmugasundram reviewed gene: EIF3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 EIF3A Achchuthan Shanmugasundram reviewed gene: EIF3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: MONDO:0100038, EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 EFL1 Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 28331068; Phenotypes: EFL1-related Shwachman-Diamond syndrome, MONDO:0044205, OMIM:617941.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DRG1 Achchuthan Shanmugasundram reviewed gene: DRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37179472; Phenotypes: MONDO:0957990, OMIM:620641.0, DRG1-related neurodevelopmental disorder with microcephaly and dysmorphic facial features (Tan-Almurshedi syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DOCK4 Achchuthan Shanmugasundram reviewed gene: DOCK4: Rating: RED; Mode of pathogenicity: ; Publications: 38526744; Phenotypes: DOCK4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 DOCK3 Achchuthan Shanmugasundram reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29130632, 30976111, 40151040, 28195318; Phenotypes: DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, OMIM:618292.0, MONDO:0032661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DOCK2 Achchuthan Shanmugasundram reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30838481, 26083206, 34872585, 33928462, 36541113; Phenotypes: OMIM:616433.0, DOCK2-related severe combined immunodeficiency, MONDO:0014637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DDX17 Achchuthan Shanmugasundram reviewed gene: DDX17: Rating: GREEN; Mode of pathogenicity: ; Publications: 39405200; Phenotypes: MONDO:0700092, DDX17-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CLDND1 Achchuthan Shanmugasundram reviewed gene: CLDND1: Rating: RED; Mode of pathogenicity: ; Publications: 38493358; Phenotypes: CLDND1-related leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CIAO1 Achchuthan Shanmugasundram reviewed gene: CIAO1: Rating: RED; Mode of pathogenicity: ; Publications: 38411040, 38950322; Phenotypes: CIAO1-related neuromuscular disorder with intellectual disability, MONDO:0975806; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 CELSR3 Achchuthan Shanmugasundram reviewed gene: CELSR3: Rating: RED; Mode of pathogenicity: ; Publications: 38429302; Phenotypes: MONDO:0100038, CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 CELF4 Achchuthan Shanmugasundram reviewed gene: CELF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40108438; Phenotypes: CELF4-related neurodevelopmental disorder with overgrowth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CDO1 Achchuthan Shanmugasundram reviewed gene: CDO1: Rating: RED; Mode of pathogenicity: ; Publications: 39949058; Phenotypes: CDO1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CAPN15 Achchuthan Shanmugasundram reviewed gene: CAPN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 33410501, 40485323, 32885237, 36786328, 37596828; Phenotypes: MONDO:0036189, CAPN15-related oculogastrointestinal neurodevelopmental syndrome, OMIM:619318.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ATXN7L3 Achchuthan Shanmugasundram reviewed gene: ATXN7L3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38753057; Phenotypes: ATXN7L3-related developmental delay, hypotonia and facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 ADAMTS19 Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: ; Publications: 32323311, 31844321; Phenotypes: ADAMTS19-related cardiac valvular dysplasia, OMIM:620067.0, MONDO:0859572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ADAMTS15 Achchuthan Shanmugasundram reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: 35962790; Phenotypes: ADAMTS15-related distal arthrogryposis, OMIM:620545.0, MONDO:0957819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ABCA2 Achchuthan Shanmugasundram reviewed gene: ABCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31047799, 31231135, 29302074, 30237576, 38228874; Phenotypes: ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930, OMIM:618808.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ZSCAN10 Achchuthan Shanmugasundram commented on gene: ZSCAN10: The DDG2P confidence category, allelic requirement and molecular mechanism for ZSCAN10-related neurodevelopmental disorder with oto-facial malformations are moderate, biallelic_autosomal and loss of function (PMID:38386308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03562.
DDG2P v6.17 ZNF713 Achchuthan Shanmugasundram edited their review of gene: ZNF713: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF713-related autism are limited, monoallelic_autosomal and undetermined (PMID:25196122). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01264.; Changed phenotypes to: AUTISM, OMIM:209850, OMIM:209850.0, MONDO:0005260, ZNF713-related autism
DDG2P v6.17 ZNF526 Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF526-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00665.; Changed phenotypes to: ZNF526-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0859251, OMIM:619877.0
DDG2P v6.17 ZNF407 Achchuthan Shanmugasundram edited their review of gene: ZNF407: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF407-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMIDs: 24907849, 32737394). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03027.; Changed publications to: 24907849, 32737394; Changed phenotypes to: ZNF407-related Neurodevelopmental Disorder, OMIM:619557.0, MONDO:0859198, ZNF407-related neurodevelopmental disorder
DDG2P v6.17 ZMYND8 Achchuthan Shanmugasundram edited their review of gene: ZMYND8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZMYND8-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:35916866). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03372.; Changed phenotypes to: ZMYND8-related neurodevelopmental disorder, MONDO:0700092
DDG2P v6.17 CYHR1 Achchuthan Shanmugasundram edited their review of gene: CYHR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFTRAF1-related neurodevelopmental disorder are limited, biallelic_autosomal and loss of function (PMID:38641995). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03563.; Changed phenotypes to: ZFTRAF1-related neurodevelopmental disorder, MONDO:0700092
DDG2P v6.17 ZFHX3 Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFHX3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30809043, 38412861). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02901.; Changed publications to: 30809043, 32502225, 38412861; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic), ZFHX3-related neurodevelopmental disorder
DDG2P v6.17 ZBTB47 Achchuthan Shanmugasundram commented on gene: ZBTB47: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures are limited, monoallelic_autosomal and undetermined (PMID:38327012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03548.
DDG2P v6.17 ZBTB16 Achchuthan Shanmugasundram edited their review of gene: ZBTB16: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:18611983). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00630.; Changed publications to: 18611983; Changed phenotypes to: MONDO:0012909, OMIM:612447.0, ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder, SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447
DDG2P v6.17 ZBTB11 Achchuthan Shanmugasundram edited their review of gene: ZBTB11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder are strong, biallelic_autosomal and loss of function (PMIDs: 29893856, 31130284, 35104841, 36068688, 38899514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03546.; Changed publications to: 36068688, 38899514, 31130284, 35104841, 29893856; Changed phenotypes to: ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder, MONDO:0032715, OMIM:618383.0
DDG2P v6.17 YY1 Achchuthan Shanmugasundram edited their review of gene: YY1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for YY1-related intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 21076407, 28575647). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00744.; Changed publications to: 21076407, 28575647; Changed phenotypes to: MONDO:0044738, INTELLECTUAL DISABILITY, OMIM:616579, OMIM:617557.0, YY1-related intellectual disability
DDG2P v6.17 YWHAZ Achchuthan Shanmugasundram commented on gene: YWHAZ: The DDG2P confidence category, allelic requirement and molecular mechanism for YWHAZ-related developmental delay with simplified gyral pattern are limited, monoallelic_autosomal and undetermined (PMID:36001342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03510.
DDG2P v6.17 WRAP53 Achchuthan Shanmugasundram edited their review of gene: WRAP53: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WRAP53-related dyskeratosis congenita are strong, biallelic_autosomal and loss of function (PMIDs: 21205863, 29514627, 32303682, 34599657). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00718.; Changed publications to: 34599657, 32303682, 29514627, 21205863; Changed phenotypes to: OMIM:613988.0, WRAP53-related dyskeratosis congenita, MONDO:0013520, WRAP53-related dyskeratosis congenita, OMIM:613988
DDG2P v6.17 WNT7A Achchuthan Shanmugasundram edited their review of gene: WNT7A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT7A- related skeletal malformations syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16826533, 20949531, 21271649, 21344627, 9128926). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00391.; Changed publications to: 21344627, 20949531, 9128926, 16826533, 21271649; Changed phenotypes to: OMIM:228930.0, WNT7A- related skeletal malformations syndrome, WNT7A- associated skeletal malformations syndrome, OMIM:228930
DDG2P v6.17 WNT5A Achchuthan Shanmugasundram edited their review of gene: WNT5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT5A-related Robinow syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 19918918, 5771504). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01061.; Changed phenotypes to: OMIM:180700.0, WNT5A-related Robinow syndrome, WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700, MONDO:0024455
DDG2P v6.17 WNT4 Achchuthan Shanmugasundram edited their review of gene: WNT4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related SERKAL syndrome are strong, biallelic_autosomal and undetermined (PMID:18179883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00183. The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related mullerian aplasia and hyperandrogenism are strong, monoallelic_autosomal and undetermined (PMID:15317892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01570.; Changed phenotypes to: SERKAL SYNDROME, OMIM:611812, MONDO:0012734, WNT4-related mullerian aplasia and hyperandrogenism, MONDO:0008019, OMIM:611812.0, MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, OMIM:158330.0, WNT4-related SERKAL syndrome
DDG2P v6.17 WDR81 Achchuthan Shanmugasundram edited their review of gene: WDR81: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR81-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome are limited, biallelic_autosomal and undetermined (PMID:21885617). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01695.; Changed phenotypes to: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 2, OMIM:610185, OMIM:610185.0, MONDO:0012430, WDR81-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome
DDG2P v6.17 WDR5 Achchuthan Shanmugasundram edited their review of gene: WDR5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR5-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36408368). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03417.; Changed phenotypes to: WDR5-related neurodevelopmental disorder, MONDO:0700092
DDG2P v6.17 WDR45B Achchuthan Shanmugasundram edited their review of gene: WDR45B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR45B-related intellectual developmental disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 28503735, 35322404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00898.; Changed phenotypes to: WDR45B-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR37-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 31327508, 31327510). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02760.; Changed publications to: 31327510, 31327508; Changed phenotypes to: MONDO:0032850, OMIM:618652.0, WDR37-related syndromic intellectual disability, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100
DDG2P v6.17 WDR11 Achchuthan Shanmugasundram edited their review of gene: WDR11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR11-related intellectual disability and microcephaly are strong, biallelic_autosomal and loss of function (PMID:34413497). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03182.; Changed phenotypes to: WDR11-associated intellectual disability and microcephaly, WDR11-related intellectual disability and microcephaly, OMIM:620237.0, MONDO:0859373
DDG2P v6.17 VPS4A Achchuthan Shanmugasundram edited their review of gene: VPS4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (monoallelic) are definitive, monoallelic_autosomal and dominant negative (PMIDs: 33186543, 33186545). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03076. The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33186543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03077.; Changed phenotypes to: MONDO:0035819, CIMDAG Syndrome, biallelic, OMIM:619273.0, VPS4A-related CIMDAG Syndrome (monoallelic), CIMDAG Syndrome, monoallelic, VPS4A-related CIMDAG Syndrome (biallelic)
DDG2P v6.17 VANGL1 Achchuthan Shanmugasundram edited their review of gene: VANGL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VANGL1-related neural tube defects are limited, monoallelic_autosomal and undetermined (PMID:17409324). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00383.; Changed phenotypes to: VANGL1-related neural tube defects, MONDO:0020705, OMIM:182940.0, NEURAL TUBE DEFECTS, OMIM:182940
DDG2P v6.17 VAMP2 Achchuthan Shanmugasundram edited their review of gene: VAMP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAMP2-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:30929742). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02785.; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0032900, VAMP2-related intellectual disability, OMIM:618760.0
DDG2P v6.17 VAC14 Achchuthan Shanmugasundram edited their review of gene: VAC14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAC14-related progressive neurological disorder and regression of developmental milestones are limited, biallelic_autosomal and undetermined (PMID:27292112). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01753.; Changed phenotypes to: Progressive neurological disorder and regression of developmental milestones, VAC14-related progressive neurological disorder and regression of developmental milestones
DDG2P v6.17 UTP4 Achchuthan Shanmugasundram edited their review of gene: UTP4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UTP4-related North American Indian childhood cirrhosis are limited, biallelic_autosomal and undetermined (PMID:12417987). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01510.; Changed phenotypes to: MONDO:0011497, UTP4-related North American Indian childhood cirrhosis, NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS, OMIM:205306
DDG2P v6.17 USP14 Achchuthan Shanmugasundram edited their review of gene: USP14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for USP14-related syndromic neurodevelopmental disorder with arthrogryposis are moderate, biallelic_autosomal and undetermined (PMIDs: 35066879, 38469793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03307.; Changed publications to: 35066879, 38469793; Changed phenotypes to: USP14-related syndromic neurodevelopmental disorder with arthrogryposis, MONDO:0100038
DDG2P v6.17 UROC1 Achchuthan Shanmugasundram edited their review of gene: UROC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UROC1-related urocanase deficiency are disputed, biallelic_autosomal and undetermined (PMIDs: 19304569, 27391121, 30619714, 32439973). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01370.; Changed rating: RED; Changed publications to: 27391121, 19304569, 32439973, 30619714; Changed phenotypes to: MONDO:0010167, UROCANASE DEFICIENCY, OMIM:276880, UROC1-related urocanase deficiency, OMIM:276880.0
DDG2P v6.17 UQCRQ Achchuthan Shanmugasundram edited their review of gene: UQCRQ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UQCRQ-related mitochondrial respiratory chain complex III deficiency are strong, biallelic_autosomal and undetermined (PMID:18439546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01004.; Changed publications to: 18439546; Changed phenotypes to: MONDO:0014065, OMIM:615159.0, UQCRQ-related mitochondrial respiratory chain complex III deficiency, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211
DDG2P v6.17 UNC45B Achchuthan Shanmugasundram edited their review of gene: UNC45B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UNC45B-related progressive myopathy with eccentric cores are strong, biallelic_autosomal and undetermined (PMID:33217308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03074.; Changed phenotypes to: UNC45B-associated Progressive Myopathy with Eccentric Cores, UNC45B-related progressive myopathy with eccentric cores, OMIM:619178.0, MONDO:0030927
DDG2P v6.17 UHRF1 Achchuthan Shanmugasundram edited their review of gene: UHRF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome are limited, biallelic_autosomal and undetermined (PMID:36458887). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03457.; Changed phenotypes to: MONDO:0000133, UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome
DDG2P v6.17 UFSP2 Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFSP2-related developmental delay and epilepsy are limited, biallelic_autosomal and undetermined (PMID:33473208). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03164.; Changed phenotypes to: OMIM:620028.0, UFSP2-related developmental delay and epilepsy, MONDO:0031052, UFSP2-associated developmental delay and epilepsy
DDG2P v6.17 UFC1 Achchuthan Shanmugasundram edited their review of gene: UFC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFC1-related severe early-onset encephalopathy with progressive microcephaly are definitive, biallelic_autosomal and undetermined (PMID:29868776). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02544.; Changed phenotypes to: MONDO:0060752, UFC1-related severe early-onset encephalopathy with progressive microcephaly, OMIM:618076.0, Severe early-onset encephalopathy with progressive microcephaly
DDG2P v6.17 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UBR7-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 33340455, 36757286). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01524.; Changed publications to: 33340455, 36757286, 21937992; Changed phenotypes to: UBR7-related intellectual developmental disorder, MONDO:0030963, OMIM:619189.0, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for U2AF2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33644862, 34112922, 36747105, 37962958). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02884.; Changed publications to: 34112922, 33057194, 37962958, 36747105, 33644862; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), OMIM:620535.0, MONDO:0957810, U2AF2-related neurodevelopmental disorder
DDG2P v6.17 TUFM Achchuthan Shanmugasundram edited their review of gene: TUFM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUFM-related combined oxidative phosphorylation deficiency are strong, biallelic_autosomal and undetermined (PMID:17160893). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01108.; Changed phenotypes to: TUFM-related combined oxidative phosphorylation deficiency, OMIM:610678.0, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678, MONDO:0012534
DDG2P v6.17 TUBGCP2 Achchuthan Shanmugasundram edited their review of gene: TUBGCP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBGCP2-related microcephaly and lissencephaly spectrum disorders are strong, biallelic_autosomal and undetermined (PMID:31630790). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02836.; Changed phenotypes to: TUBGCP2-related microcephaly and lissencephaly spectrum disorders, MONDO:0032893, Microcephaly and Lissencephaly Spectrum Disorders, OMIM:618737.0
DDG2P v6.17 TUBG1 Achchuthan Shanmugasundram edited their review of gene: TUBG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBG1-related posteriorly predominant pachygyria and severe microcephaly are strong, monoallelic_autosomal and undetermined (PMID:23603762). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02358.; Changed phenotypes to: Posteriorly predominant pachygyria and severe microcephaly, TUBG1-related posteriorly predominant pachygyria and severe microcephaly, OMIM:615412.0, MONDO:0014171
DDG2P v6.17 TUBB3 Achchuthan Shanmugasundram edited their review of gene: TUBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB3-related cortical dysplasia, complex, with other brain malformations are strong, monoallelic_autosomal and undetermined (PMIDs: 20074521, 20829227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00755.; Changed publications to: 20829227, 20074521; Changed phenotypes to: MONDO:0013541, TUBB3-related cortical dysplasia, complex, with other brain malformations, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, OMIM:614039.0
DDG2P v6.17 TUBB2A Achchuthan Shanmugasundram edited their review of gene: TUBB2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB2A-related cortical dysplasia, complex, with other brain malformations are definitive, monoallelic_autosomal and undetermined (PMID:24702957). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00402.; Changed phenotypes to: OMIM:615763.0, TUBB2A-related cortical dysplasia, complex, with other brain malformations, MONDO:0014337, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763
DDG2P v6.17 TUBB Achchuthan Shanmugasundram edited their review of gene: TUBB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type) are strong, monoallelic_autosomal and undetermined (PMIDs: 23246003, 23324645, 26637975, 34211110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01654.; Changed publications to: 34211110, 23324645, 23246003, 26637975; Changed phenotypes to: MONDO:0020738, Circumferential Skin Creases Kunze Type, OMIM:156610, OMIM:156610.0, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771, TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type)
DDG2P v6.17 TTI2 Achchuthan Shanmugasundram edited their review of gene: TTI2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTI2-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01468.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615541.0, TTI2-related intellectual developmental disorder, MONDO:0014238
DDG2P v6.17 TTC12 Achchuthan Shanmugasundram edited their review of gene: TTC12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTC12-related primary ciliary dyskinesia are strong, biallelic_autosomal and loss of function (PMID:31978331). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02927.; Changed rating: GREEN; Changed phenotypes to: TTC12-related Primary Ciliary Dyskinesia, OMIM:618801.0, MONDO:0032924, TTC12-related primary ciliary dyskinesia
DDG2P v6.17 TSHR Achchuthan Shanmugasundram edited their review of gene: TSHR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hypothyroidism, congenital, nongoitrous are definitive, biallelic_autosomal and undetermined (PMIDs: 10720030, 11095460, 12050212, 7528344, 8954020, 9100579, 9185526, 9329388, 9589691). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01099. The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hyperthyroidism, familial gestational are definitive, monoallelic_autosomal and gain of function (PMID:9854118). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01423.; Changed publications to: 12050212, 10720030, 9100579, 9185526, 9329388, 8954020, 9854118, 11095460, 7528344, 9589691; Changed phenotypes to: TSHR-related hypothyroidism, congenital, nongoitrous, MONDO:0011309, OMIM:603373.0, HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, TSHR-related hyperthyroidism, familial gestational, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200, MONDO:0010142, OMIM:275200.0