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Deafness and congenital structural abnormalities v1.25 ORC6 Arina Puzriakova Phenotypes for gene: ORC6 were changed from Bilateral Microtia; 613803; Meier-Gorlin EPS; causes syndromic features; Meier-Gorlin syndrome 3 to Meier-Gorlin syndrome 3, OMIM:613803; Bilateral Microtia
Deafness and congenital structural abnormalities v1.24 CDC6 Arina Puzriakova Phenotypes for gene: CDC6 were changed from Bilateral Microtia; 613805; Meier-Gorlin syndrome 5, 613805; Neurology panel; Bilateral Microtia, 613805; Causes Meier-Gorlin EPS; syndromic features to Meier-Gorlin syndrome 5, OMIM:613805; Bilateral Microtia
Deafness and congenital structural abnormalities v1.23 CDT1 Arina Puzriakova Phenotypes for gene: CDT1 were changed from Bilateral Microtia; 613804; Meier-Gorlin syndrome 4, 613804; Causes Meier-Gorlin EPS; syndromic features; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge to Meier-Gorlin syndrome 4, OMIM:613804; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge
Deafness and congenital structural abnormalities v1.22 FOXI3 Arina Puzriakova Classified gene: FOXI3 as Green List (high evidence)
Deafness and congenital structural abnormalities v1.22 FOXI3 Arina Puzriakova Added comment: Comment on list classification: Promoting from Red to Green as a recent study (highlighted by GEL Clinical Team) provides corroborating evidence linking FOXI3 with microtia with or without atresia. Sufficient unrelated cases and supported by concordant animal models.
Deafness and congenital structural abnormalities v1.22 FOXI3 Arina Puzriakova Gene: foxi3 has been classified as Green List (High Evidence).
Deafness and congenital structural abnormalities v1.21 FOXI3 Arina Puzriakova Publications for gene: FOXI3 were set to
Deafness and congenital structural abnormalities v1.20 FOXI3 Arina Puzriakova Mode of inheritance for gene: FOXI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness and congenital structural abnormalities v1.19 FOXI3 Arina Puzriakova reviewed gene: FOXI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36260083, 25655429, 18787161, 24650709; Phenotypes: Microtia with or without atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness and congenital structural abnormalities v1.19 ISCA-37501-Loss Arina Puzriakova commented on Region: ISCA-37501-Loss
Deafness and congenital structural abnormalities v1.19 ISCA-37396-Loss Ivone Leong commented on Region: ISCA-37396-Loss
Deafness and congenital structural abnormalities v1.19 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Deafness and congenital structural abnormalities v1.19 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Deafness and congenital structural abnormalities v1.19 ISCA-37501-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to .
Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Deafness and congenital structural abnormalities v1.19 ISCA-37396-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37396-Loss was changed from None to .
Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Deafness and congenital structural abnormalities v1.18 FGFR2 Arina Puzriakova Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness and congenital structural abnormalities v1.17 FGFR2 Arina Puzriakova Tag Q1_22_MOI was removed from gene: FGFR2.
Deafness and congenital structural abnormalities v1.17 FGFR2 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: FGFR2.
Deafness and congenital structural abnormalities v1.17 DWS Arina Puzriakova Tag curated_removed tag was added to gene: DWS.
Deafness and congenital structural abnormalities v1.17 DWS Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: DWS.
Deafness and congenital structural abnormalities v1.16 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Deafness and congenital structural abnormalities v1.15 ISCA-37396-Loss Louise Daugherty Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Deafness and congenital structural abnormalities v1.14 ISCA-37396-Loss Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence)
Deafness and congenital structural abnormalities v1.14 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence).
Deafness and congenital structural abnormalities v1.13 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Deafness and congenital structural abnormalities v1.13 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Deafness and congenital structural abnormalities v1.12 ISCA-37396-Loss Louise Daugherty Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Deafness and congenital structural abnormalities. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Sources: Expert list
Deafness and congenital structural abnormalities v1.11 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Deafness and congenital structural abnormalities. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Deafness and congenital structural abnormalities v1.10 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Deafness and congenital structural abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Deafness and congenital structural abnormalities DACT1 Louise Daugherty added DACT1 to panel
Deafness and congenital structural abnormalities DACT1 Louise Daugherty reviewed DACT1
Deafness and congenital structural abnormalities DWS Louise Daugherty classified DWS as grey
Deafness and congenital structural abnormalities DWS Louise Daugherty commented on DWS
Deafness and congenital structural abnormalities DWS Ellen McDonagh commented on DWS
Deafness and congenital structural abnormalities Ellen McDonagh promoted panel to version 1
Deafness and congenital structural abnormalities SALL4 Richard Scott classified SALL4 as green
Deafness and congenital structural abnormalities HOXA2 Ellen McDonagh classified HOXA2 as green
Deafness and congenital structural abnormalities HOXA2 Ellen McDonagh classified HOXA2 as amber
Deafness and congenital structural abnormalities KDM6A Richard Scott classified KDM6A as green
Deafness and congenital structural abnormalities KMT2D Richard Scott classified KMT2D as green
Deafness and congenital structural abnormalities KDM6A Richard Scott reviewed KDM6A
Deafness and congenital structural abnormalities KMT2D Richard Scott reviewed KMT2D
Deafness and congenital structural abnormalities HSPA9 Richard Scott marked HSPA9 as ready
Deafness and congenital structural abnormalities HSPA9 Richard Scott classified HSPA9 as green
Deafness and congenital structural abnormalities HSPA9 Richard Scott added HSPA9 to panel
Deafness and congenital structural abnormalities HSPA9 Richard Scott reviewed HSPA9
Deafness and congenital structural abnormalities SALL4 Richard Scott classified SALL4 as amber
Deafness and congenital structural abnormalities SALL4 Richard Scott commented on SALL4
Deafness and congenital structural abnormalities BMP4 Richard Scott classified BMP4 as green
Deafness and congenital structural abnormalities BMP4 Richard Scott classified BMP4 as green
Deafness and congenital structural abnormalities BMP4 Richard Scott reviewed BMP4
Deafness and congenital structural abnormalities FOXI1 Muriel Holder reviewed FOXI1
Deafness and congenital structural abnormalities RPS28 Muriel Holder reviewed RPS28
Deafness and congenital structural abnormalities WIF1 Muriel Holder reviewed WIF1
Deafness and congenital structural abnormalities TWSG1 Muriel Holder reviewed TWSG1
Deafness and congenital structural abnormalities NKX3-2 Muriel Holder reviewed NKX3-2
Deafness and congenital structural abnormalities LEMD3 Muriel Holder reviewed LEMD3
Deafness and congenital structural abnormalities KDM6A Muriel Holder reviewed KDM6A
Deafness and congenital structural abnormalities FOXI3 Muriel Holder reviewed FOXI3
Deafness and congenital structural abnormalities DWS Muriel Holder reviewed DWS
Deafness and congenital structural abnormalities BMP5 Muriel Holder reviewed BMP5
Deafness and congenital structural abnormalities GDF6 Muriel Holder reviewed GDF6
Deafness and congenital structural abnormalities HOXA2 Muriel Holder reviewed HOXA2
Deafness and congenital structural abnormalities EVC Muriel Holder reviewed EVC
Deafness and congenital structural abnormalities PORCN Muriel Holder reviewed PORCN
Deafness and congenital structural abnormalities SIX5 Muriel Holder reviewed SIX5
Deafness and congenital structural abnormalities SALL4 Muriel Holder reviewed SALL4
Deafness and congenital structural abnormalities KMT2D Muriel Holder reviewed KMT2D
Deafness and congenital structural abnormalities KMT2D Muriel Holder reviewed KMT2D
Deafness and congenital structural abnormalities TCOF1 Ellen McDonagh marked TCOF1 as ready
Deafness and congenital structural abnormalities SIX1 Ellen McDonagh marked SIX1 as ready
Deafness and congenital structural abnormalities SF3B4 Ellen McDonagh marked SF3B4 as ready
Deafness and congenital structural abnormalities SALL1 Ellen McDonagh marked SALL1 as ready
Deafness and congenital structural abnormalities POLR1D Ellen McDonagh marked POLR1D as ready
Deafness and congenital structural abnormalities POLR1C Ellen McDonagh marked POLR1C as ready
Deafness and congenital structural abnormalities PLCB4 Ellen McDonagh marked PLCB4 as ready
Deafness and congenital structural abnormalities ORC6 Ellen McDonagh marked ORC6 as ready
Deafness and congenital structural abnormalities ORC4 Ellen McDonagh marked ORC4 as ready
Deafness and congenital structural abnormalities ORC1 Ellen McDonagh marked ORC1 as ready
Deafness and congenital structural abnormalities HMX1 Ellen McDonagh marked HMX1 as ready
Deafness and congenital structural abnormalities GSC Ellen McDonagh marked GSC as ready
Deafness and congenital structural abnormalities GRIP1 Ellen McDonagh marked GRIP1 as ready
Deafness and congenital structural abnormalities GNAI3 Ellen McDonagh marked GNAI3 as ready
Deafness and congenital structural abnormalities FGFR2 Ellen McDonagh marked FGFR2 as ready
Deafness and congenital structural abnormalities FGF3 Ellen McDonagh marked FGF3 as ready
Deafness and congenital structural abnormalities WIF1 Ellen McDonagh marked WIF1 as ready
Deafness and congenital structural abnormalities TWSG1 Ellen McDonagh marked TWSG1 as ready
Deafness and congenital structural abnormalities TFAP2A Ellen McDonagh marked TFAP2A as ready
Deafness and congenital structural abnormalities TFAP2A Ellen McDonagh classified TFAP2A as green
Deafness and congenital structural abnormalities SIX5 Ellen McDonagh classified SIX5 as amber
Deafness and congenital structural abnormalities PORCN Ellen McDonagh marked PORCN as ready
Deafness and congenital structural abnormalities OTX2 Ellen McDonagh marked OTX2 as ready
Deafness and congenital structural abnormalities OTX2 Ellen McDonagh classified OTX2 as green
Deafness and congenital structural abnormalities NKX3-2 Ellen McDonagh marked NKX3-2 as ready
Deafness and congenital structural abnormalities NKX3-2 Ellen McDonagh classified NKX3-2 as red
Deafness and congenital structural abnormalities LEMD3 Ellen McDonagh marked LEMD3 as ready
Deafness and congenital structural abnormalities LEMD3 Ellen McDonagh classified LEMD3 as red
Deafness and congenital structural abnormalities KMT2D Ellen McDonagh classified KMT2D as amber
Deafness and congenital structural abnormalities HOXA2 Ellen McDonagh classified HOXA2 as amber
Deafness and congenital structural abnormalities GDF6 Ellen McDonagh classified GDF6 as amber
Deafness and congenital structural abnormalities BMP5 Ellen McDonagh marked BMP5 as ready
Deafness and congenital structural abnormalities BMP5 Ellen McDonagh classified BMP5 as red
Deafness and congenital structural abnormalities BMP4 Ellen McDonagh classified BMP4 as green
Deafness and congenital structural abnormalities SOX10 Ellen McDonagh classified SOX10 as green
Deafness and congenital structural abnormalities SOX10 Ellen McDonagh commented on SOX10
Deafness and congenital structural abnormalities SLC26A4 Ellen McDonagh classified SLC26A4 as green
Deafness and congenital structural abnormalities SLC26A4 Ellen McDonagh commented on SLC26A4
Deafness and congenital structural abnormalities SALL4 Ellen McDonagh classified SALL4 as amber
Deafness and congenital structural abnormalities SALL4 Ellen McDonagh commented on SALL4
Deafness and congenital structural abnormalities RPS28 Ellen McDonagh marked RPS28 as ready
Deafness and congenital structural abnormalities RPS28 Ellen McDonagh classified RPS28 as amber
Deafness and congenital structural abnormalities POLR1A Ellen McDonagh marked POLR1A as ready
Deafness and congenital structural abnormalities POLR1A Ellen McDonagh classified POLR1A as green
Deafness and congenital structural abnormalities OFD1 Ellen McDonagh classified OFD1 as green
Deafness and congenital structural abnormalities OFD1 Ellen McDonagh commented on OFD1
Deafness and congenital structural abnormalities FOXI1 Ellen McDonagh classified FOXI1 as red
Deafness and congenital structural abnormalities EIF4A3 Ellen McDonagh marked EIF4A3 as ready
Deafness and congenital structural abnormalities EIF4A3 Ellen McDonagh classified EIF4A3 as green
Deafness and congenital structural abnormalities EIF4A3 Ellen McDonagh classified EIF4A3 as red
Deafness and congenital structural abnormalities FGF10 Ellen McDonagh marked FGF10 as ready
Deafness and congenital structural abnormalities EYA1 Ellen McDonagh marked EYA1 as ready
Deafness and congenital structural abnormalities EYA1 Ellen McDonagh classified EYA1 as green
Deafness and congenital structural abnormalities EFTUD2 Ellen McDonagh classified EFTUD2 as green
Deafness and congenital structural abnormalities EFTUD2 Ellen McDonagh marked EFTUD2 as ready
Deafness and congenital structural abnormalities EDNRA Ellen McDonagh classified EDNRA as green
Deafness and congenital structural abnormalities DHODH Ellen McDonagh marked DHODH as ready
Deafness and congenital structural abnormalities DHODH Ellen McDonagh classified DHODH as green
Deafness and congenital structural abnormalities CHD7 Ellen McDonagh marked CHD7 as ready
Deafness and congenital structural abnormalities CHD7 Ellen McDonagh classified CHD7 as green
Deafness and congenital structural abnormalities CDT1 Ellen McDonagh marked CDT1 as ready
Deafness and congenital structural abnormalities CDT1 Ellen McDonagh classified CDT1 as green
Deafness and congenital structural abnormalities CDC6 Ellen McDonagh marked CDC6 as ready
Deafness and congenital structural abnormalities CDC6 Ellen McDonagh classified CDC6 as green
Deafness and congenital structural abnormalities EDNRA Ellen McDonagh marked EDNRA as ready
Deafness and congenital structural abnormalities EDNRA Ellen McDonagh classified EDNRA as green
Deafness and congenital structural abnormalities FREM2 Ellen McDonagh marked FREM2 as ready
Deafness and congenital structural abnormalities FREM2 Ellen McDonagh classified FREM2 as green
Deafness and congenital structural abnormalities FRAS1 Ellen McDonagh marked FRAS1 as ready
Deafness and congenital structural abnormalities FRAS1 Ellen McDonagh classified FRAS1 as green
Deafness and congenital structural abnormalities FRAS1 Ellen McDonagh classified FRAS1 as green
Deafness and congenital structural abnormalities Sarah Leigh approved panel